Welcome to the Mutalyzer web site
The aim of this program suite is to support checks of sequence variant
nomenclature according to 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
The Position Converter can convert
chromosomal positions to transcript orientated positions and vice
The SNP converter allows you to convert a
dbSNP rsId to HGVS notation.
The Name Generator is a user friendly
interface that helps to make a valid HGVS variant description.
The Description Extractor allows
you to generate the HGVS variant description from a reference
sequence and an observed sequence.
The Reference File Loader allows you to load and
use your own reference sequence.
The Batch Checkers are interfaces that accept a
list of inputs. These interfaces can be used for large quantities of
The Web services page provides instructions
for the web services.
GenBank sequences are retrieved from the
(Copyright and Disclaimers
This project is sponsored by
hardware within the scope of the Academic Excellence Grant (AEG)
program (award EDUD-7832-080223-CNE).