Welcome to the Mutalyzer web site

The aim of this program suite is to support checks of sequence variant nomenclature according to the guidelines of the Human Genome Variation Society.


Different interfaces are provided to collect the information necessary for the checks:

• The Name Checker takes the complete sequence variant description as input and checks whether it is correct.
• The Syntax Checker takes the complete sequence variant description as input and checks whether the syntax is correct.
• The Position Converter can convert chromosomal positions to transcript orientated positions and vice versa.
• The GenBank Uploader allows you to upload and use your own reference sequence.
• The SNP converter allows you to convert a dbSNP rsId to HGVS notation.
• The Webservices page provides instructions for the webservices.
• The Batch Checkers are interfaces that accept a list of inputs. These interfaces can be used for large quantities of checks.

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).