This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000460543.1:p.His199Arg
ENST00000570803.5:c.[596A>G;598G=]

ENST00000570803.5:c.[596A>G;599T=]

ENST00000570803.5:c.[596A>G;600C>A]

ENST00000570803.5:c.[596A>G;600C=]

ENST00000570803.5:c.[596A>G;600C>G]

ENST00000570803.5:c.[596A>G;600C>T]

ENST00000570803.5:c.[596A>G;601C=]

ENST00000570803.5:c.[596A>G;603C=]

ENST00000570803.5:c.[596A>G;603C>T]

ENST00000570803.5:c.[596A>G;606C=]

ENST00000570803.5:c.[596A>G;606C>T]

ENST00000570803.5:c.[596A>G;607C>A]

ENST00000570803.5:c.[596A>G;607C=]

ENST00000570803.5:c.[596A>G;608G=]

ENST00000570803.5:c.[596A>G;609G>A]

ENST00000570803.5:c.[596A>G;609G>C]

ENST00000570803.5:c.[596A>G;609G=]

ENST00000570803.5:c.[596A>G;609G>T]

ENST00000570803.5:c.[596A>G;610G=]

ENST00000570803.5:c.[596A>G;612A>C]

ENST00000570803.5:c.[596A>G;612A>G]

ENST00000570803.5:c.[596A>G;612A>T]

ENST00000570803.5:c.[596A>G;613C=]

ENST00000570803.5:c.[596A>G;614C=]

ENST00000570803.5:c.[596A>G;615G>A]

ENST00000570803.5:c.[596A>G;615G>C]

ENST00000570803.5:c.[596A>G;615G=]

ENST00000570803.5:c.[596A>G;615G>T]

ENST00000570803.5:c.[596A>G;616T=]

ENST00000570803.5:c.[596A>G;617C=]

ENST00000570803.5:c.[596A>G;618C>A]

ENST00000570803.5:c.[596A>G;618C=]

ENST00000570803.5:c.[596A>G;618C>G]

ENST00000570803.5:c.[596A>G;618C>T]

ENST00000570803.5:c.[596A>G;621A=]

ENST00000570803.5:c.[596A>G;621A>C]

ENST00000570803.5:c.[596A>G;621A>G]

ENST00000570803.5:c.[596A>G;621A>T]

ENST00000570803.5:c.[596A>G;622C>T;624C>A...

ENST00000570803.5:c.[596A>G;622C>T;624C>G...

ENST00000570803.5:c.[596A>G;623T=]

ENST00000570803.5:c.[596A>G;624C>A]

ENST00000570803.5:c.[596A>G;624C=]

ENST00000570803.5:c.[596A>G;624C>G]

ENST00000570803.5:c.[596A>G;624C>T]

ENST00000570803.5:c.[596A>G;625T=]

ENST00000570803.5:c.[596A>G;626A=]

ENST00000570803.5:c.[596A>G;627C=]

ENST00000570803.5:c.[596A>G;627C>T]

ENST00000570803.5:c.[596A>G;629_641delins...

ENST00000570803.5:c.[596A>G;630C=]

ENST00000570803.5:c.[596A>G;630C>T]

ENST00000570803.5:c.[596A>G;631G=]

ENST00000570803.5:c.[596A>G;633G>A]

ENST00000570803.5:c.[596A>G;633G>C]

ENST00000570803.5:c.[596A>G;633G>T]

ENST00000570803.5:c.[596A>G;634G=]

ENST00000570803.5:c.[596A>G;636G>A]

ENST00000570803.5:c.[596A>G;636G=]

ENST00000570803.5:c.[596A>G;639C>T]

ENST00000570803.5:c.[596A>G;641C=]

ENST00000570803.5:c.[596A>G;642C>A]

ENST00000570803.5:c.[596A>G;642C=]

ENST00000570803.5:c.[596A>G;642C>G]

ENST00000570803.5:c.[596A>G;642C>T]

ENST00000570803.5:c.[596A>G;643G=]

ENST00000570803.5:c.[596A>G;645G>A]

ENST00000570803.5:c.[596A>G;648G>A]

ENST00000570803.5:c.[596A>G;649C=]

ENST00000570803.5:c.[596A>G;651C>A]

ENST00000570803.5:c.[596A>G;651C=]

ENST00000570803.5:c.[596A>G;651C>G]

ENST00000570803.5:c.[596A>G;651C>T]

ENST00000570803.5:c.[596A>G;653T=]

ENST00000570803.5:c.[596A>G;654C=]

ENST00000570803.5:c.[596A>G;654C>T]

ENST00000570803.5:c.[596A>G;655G=]

ENST00000570803.5:c.[596A>G;657G>A]

ENST00000570803.5:c.[596A>G;657G>C]

ENST00000570803.5:c.[596A>G;657G=]

ENST00000570803.5:c.[596A>G;657G>T]

ENST00000570803.5:c.[596A>G;658G=]

ENST00000570803.5:c.[596A>G;659T=]

ENST00000570803.5:c.[596A>G;660G>A]

ENST00000570803.5:c.[596A>G;660G>C]

ENST00000570803.5:c.[596A>G;660G>T]

ENST00000570803.5:c.[596A>G;661A=]

ENST00000570803.5:c.[596A>G;663C>A]

ENST00000570803.5:c.[596A>G;663C=]

ENST00000570803.5:c.[596A>G;663C>T]

ENST00000570803.5:c.[596A>G;664G=]

ENST00000570803.5:c.[596A>G;665T=]

ENST00000570803.5:c.[596A>G;666G>A]

ENST00000570803.5:c.[596A>G;666G>C]

ENST00000570803.5:c.[596A>G;666G>T]

ENST00000570803.5:c.[596A>G;667C>A;669C>A...

ENST00000570803.5:c.[596A>G;667C>A;669C>G...

ENST00000570803.5:c.[596A>G;667C=]

ENST00000570803.5:c.[596A>G;668G=]

ENST00000570803.5:c.[596A>G;669C>A]

ENST00000570803.5:c.[596A>G;669C>G]

ENST00000570803.5:c.[596A>G;669C>T]

ENST00000570803.5:c.[596A>G;670C>A]

ENST00000570803.5:c.[596A>G;670C=]

ENST00000570803.5:c.[596A>G;671G=]

ENST00000570803.5:c.[596A>G;672G>A]

ENST00000570803.5:c.[596A>G;672G>C]

ENST00000570803.5:c.[596A>G;672G>T]

ENST00000570803.5:c.[596A>G;675G>A]

ENST00000570803.5:c.[596A>G;676C=]

ENST00000570803.5:c.[596A>G;676C>T]

ENST00000570803.5:c.[596A>G;677T=]

ENST00000570803.5:c.[596A>G;678G>A]

ENST00000570803.5:c.[596A>G;678G>C]

ENST00000570803.5:c.[596A>G;678G=]

ENST00000570803.5:c.[596A>G;678G>T]