Canonical Allele Identifier: CA349270338
Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs769404

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170822115T>G , CM000664.2:g.170822115T>G GRCh38
NC_000002.11:g.171678625T>G , CM000664.1:g.171678625T>G GRCh37
NC_000002.10:g.171386871T>G NCBI36
NG_021477.1:g.10426T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358196.8:c.111T>G MANE Select ENSP00000350928.3:p.His37Gln
ENST00000344257.9:c.111T>G ENSP00000341167.5:p.His37Gln
ENST00000358196.7:c.111T>G ENSP00000350928.3:p.His37Gln
ENST00000375272.5:c.111T>G ENSP00000364421.1:p.His37Gln
ENST00000414527.6:c.111T>G ENSP00000403849.1:p.His37Gln
ENST00000429023.1:n.92T>G
ENST00000445006.5:c.111T>G ENSP00000394948.1:p.His37Gln
ENST00000454603.5:c.111T>G ENSP00000402366.1:p.His37Gln
ENST00000455008.5:c.111T>G ENSP00000405917.1:p.His37Gln
ENST00000456864.5:c.111T>G ENSP00000394255.1:p.His37Gln
ENST00000485013.1:n.398T>G
ENST00000486850.1:c.29T>G
ENST00000493875.5:c.111T>G ENSP00000434696.1:p.His37Gln
ENST00000625689.2:c.111T>G ENSP00000486612.1:p.His37Gln
NM_000817.2:c.111T>G NP_000808.2:p.His37Gln
NM_013445.3:c.111T>G NP_038473.2:p.His37Gln
XM_005246444.2:c.111T>G XP_005246501.1:p.His37Gln
XM_011510922.1:c.111T>G XP_011509224.1:p.His37Gln
XM_005246444.3:c.111T>G XP_005246501.1:p.His37Gln
XM_017003756.1:c.111T>G XP_016859245.1:p.His37Gln
XM_017003757.2:c.111T>G XP_016859246.1:p.His37Gln
XM_017003758.2:c.111T>G XP_016859247.1:p.His37Gln
NM_000817.3:c.111T>G MANE Select NP_000808.2:p.His37Gln
NM_013445.4:c.111T>G NP_038473.2:p.His37Gln