Canonical Allele Identifier: CA60612978

Gene: GAD1

Linked Data

• dbSNP Id: rs990714022
• gnomAD v2: 2-171693635-T-C
• gnomAD v3: 2-170837125-T-C
• gnomAD v4: 2-170837125-T-C
• MyVariant Identifiers: chr2:g.171693635T>C (hg19) ; chr2:g.170837125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170837125T>C , CM000664.2:g.170837125T>C	GRCh38
NC_000002.11:g.171693635T>C , CM000664.1:g.171693635T>C	GRCh37
NC_000002.10:g.171401881T>C	NCBI36
NG_021477.1:g.25436T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358196.8:c.638+242T>C MANE Select	ENSP00000350928.3:n.638+242T>C
ENST00000344257.9:c.638+242T>C	ENSP00000341167.5:n.638+242T>C
ENST00000358196.7:c.638+242T>C	ENSP00000350928.3:n.638+242T>C
ENST00000375272.5:c.638+242T>C	ENSP00000364421.1:n.638+242T>C
ENST00000414527.6:c.638+242T>C	ENSP00000403849.1:n.638+242T>C
ENST00000429023.1:n.619+242T>C
ENST00000493875.5:c.638+242T>C	ENSP00000434696.1:n.638+242T>C
ENST00000625689.2:c.638+242T>C	ENSP00000486612.1:n.638+242T>C
NM_000817.2:c.638+242T>C	NP_000808.2:n.638+242T>C
NM_013445.3:c.638+242T>C	NP_038473.2:n.638+242T>C
XM_005246444.2:c.638+242T>C	XP_005246501.1:n.638+242T>C
XM_011510922.1:c.638+242T>C	XP_011509224.1:n.638+242T>C
XM_005246444.3:c.638+242T>C	XP_005246501.1:n.638+242T>C
XM_017003756.1:c.638+242T>C	XP_016859245.1:n.638+242T>C
XM_017003757.2:c.638+242T>C	XP_016859246.1:n.638+242T>C
XM_017003758.2:c.638+242T>C	XP_016859247.1:n.638+242T>C
NM_000817.3:c.638+242T>C MANE Select	NP_000808.2:n.638+242T>C
NM_013445.4:c.638+242T>C	NP_038473.2:n.638+242T>C