Please insert a variant description using the HGVS format.
0 Errors, 0 Warnings.
Raw variant 1: substitution at 1168
TATTAAGGAAGAGGCAGGGTTCAAG A GGAGCCATGGGGCACTACGTCTTAG
TATTAAGGAAGAGGCAGGGTTCAAG C GGAGCCATGGGGCACTACGTCTTAG
(Not for use in LSDBs in case of protein-coding transcripts).
NM_000410.3(HFE_i001):p.(Arg336Ser)
1 MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
61 YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
121 ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
181 AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
241 KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
301 PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE*
1 MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
61 YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
121 ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
181 AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
241 KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
301 PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSSGAMG HYVLAERE*
Raw variant | Created | Deleted |
---|---|---|
1 | AciI | BseRI, Hpy188III |
Genomic description: 1168A>C
Number | Start (g.) | Stop (g.) | Start (c.) | Stop (c.) |
---|---|---|---|---|
1 | 1 | 236 | -160 | 76 |
2 | 237 | 500 | 77 | 340 |
3 | 501 | 776 | 341 | 616 |
4 | 777 | 1052 | 617 | 892 |
5 | 1053 | 1166 | 893 | 1006 |
6 | 1167 | 2222 | 1007 | *1015 |
g. | c. | |
---|---|---|
Start | 161 | 1 |
Stop | 1207 | 1047 |
Download this reference sequence file: NM_000410.3.gb
Name | ID | Locus tag | Product | Link method |
---|---|---|---|---|
HFE_v001 | NM_000410.3 | exhaustion | ||
HFE_i001 | NP_000401.1 | hereditary hemochromatosis protein isoform 1 precursor | exhaustion |
Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.