Welcome to the Mutalyzer website
The aim of this program suite is to support checks of sequence variant
nomenclature according to the
guidelines of the
Human Genome Variation Society.
The Name Checker takes the complete sequence variant description as input and checks whether it is correct.
Takes the complete sequence variant description as input and checks whether the syntax is correct.
Converts chromosomal positions to transcript orientated positions and vice versa.
Allows you to convert a dbSNP rsId to HGVS notation.
A user friendly interface that helps to make a valid HGVS variant description.
Allows you to generate the HGVS variant description from a reference sequence and an observed sequence.
Allows you to load and use your own reference sequence.
Interfaces accepting a list of inputs that can be used for large quantities of checks.
Provides instructions for the web services.
GenBank sequences are retrieved
via NCBI Entrez
Policies and Disclaimers).
LRG sequences are retrieved from
the Locus Reference Genomic FTP
site (EMBL-EBI Terms of
The NCBI Map Viewer data
and EBI LRG transcripts map
files are the primary sources for transcript mappings, with a selection of
transcript mappings from
the UCSC Genome
Browser MySQL database manually added on a per-gene basis.