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 from the NCBI (Copyright and Disclaimers).
This project is sponsored by SUN Microsystems with server hardware within the scope of the Academic Excellence Grant (AEG) program (award EDUD-7832-080223-CNE).