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.

Name Checker

The Name Checker takes the complete sequence variant description as input and checks whether it is correct.

Examples: AB026906.1:c.274G>T, NG_012337.1(SDHD_v001):c.274G>T

Syntax Checker

Takes the complete sequence variant description as input and checks whether the syntax is correct.

Position Converter

Converts chromosomal positions to transcript orientated positions and vice versa.

SNP Converter

Allows you to convert a dbSNP rsId to HGVS notation.

Name Generator

A user friendly interface that helps to make a valid HGVS variant description.

Description Extractor

Allows you to generate the HGVS variant description from a reference sequence and an observed sequence.

Reference File Loader

Allows you to load and use your own reference sequence.

Batch Checkers

Interfaces accepting a list of inputs that can be used for large quantities of checks.

Web Services

Provides instructions for the web services.

GenBank sequences are retrieved via NCBI Entrez (Data Usage Policies and Disclaimers).

LRG sequences are retrieved from the Locus Reference Genomic FTP site (EMBL-EBI Terms of Use).

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.