Canonical Allele Identifier: CA1962517

Gene: GAD1

Linked Data

• ClinVar Variation Id: 332226
• ClinVar RCV Id: RCV001529844 ; RCV001701858 ; RCV001836779 ; RCV001712055
• dbSNP Id: rs769404
• ExAC: 2:171678625 T / C
• gnomAD v2: 2-171678625-T-C
• gnomAD v3: 2-170822115-T-C
• gnomAD v4: 2-170822115-T-C
• MyVariant Identifiers: chr2:g.171678625T>C (hg19) ; chr2:g.170822115T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358196.8:c.111T>C MANE Select	ENSP00000350928.3:p.His37=
ENST00000344257.9:c.111T>C	ENSP00000341167.5:p.His37=
ENST00000358196.7:c.111T>C	ENSP00000350928.3:p.His37=
ENST00000375272.5:c.111T>C	ENSP00000364421.1:p.His37=
ENST00000414527.6:c.111T>C	ENSP00000403849.1:p.His37=
ENST00000429023.1:n.92T>C
ENST00000445006.5:c.111T>C	ENSP00000394948.1:p.His37=
ENST00000454603.5:c.111T>C	ENSP00000402366.1:p.His37=
ENST00000455008.5:c.111T>C	ENSP00000405917.1:p.His37=
ENST00000456864.5:c.111T>C	ENSP00000394255.1:p.His37=
ENST00000485013.1:n.398T>C
ENST00000486850.1:c.29T>C
ENST00000493875.5:c.111T>C	ENSP00000434696.1:p.His37=
ENST00000625689.2:c.111T>C	ENSP00000486612.1:p.His37=
NM_000817.2:c.111T>C	NP_000808.2:p.His37=
NM_013445.3:c.111T>C	NP_038473.2:p.His37=
XM_005246444.2:c.111T>C	XP_005246501.1:p.His37=
XM_011510922.1:c.111T>C	XP_011509224.1:p.His37=
XM_005246444.3:c.111T>C	XP_005246501.1:p.His37=
XM_017003756.1:c.111T>C	XP_016859245.1:p.His37=
XM_017003757.2:c.111T>C	XP_016859246.1:p.His37=
XM_017003758.2:c.111T>C	XP_016859247.1:p.His37=
NM_000817.3:c.111T>C MANE Select	NP_000808.2:p.His37=
NM_013445.4:c.111T>C	NP_038473.2:p.His37=