Canonical Allele Identifier: CA760618059

Gene: GAD1

Linked Data

• dbSNP Id: rs1294606753
• gnomAD v4: 2-170821777-C-T
• MyVariant Identifiers: chr2:g.171678287C>T (hg19) ; chr2:g.170821777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170821777C>T , CM000664.2:g.170821777C>T	GRCh38
NC_000002.11:g.171678287C>T , CM000664.1:g.171678287C>T	GRCh37
NC_000002.10:g.171386533C>T	NCBI36
NG_021477.1:g.10088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358196.8:c.83-310C>T MANE Select	ENSP00000350928.3:n.83-310C>T
ENST00000344257.9:c.83-310C>T	ENSP00000341167.5:n.83-310C>T
ENST00000358196.7:c.83-310C>T	ENSP00000350928.3:n.83-310C>T
ENST00000375272.5:c.83-310C>T	ENSP00000364421.1:n.83-310C>T
ENST00000414527.6:c.83-310C>T	ENSP00000403849.1:n.83-310C>T
ENST00000429023.1:n.64-310C>T
ENST00000445006.5:c.83-310C>T	ENSP00000394948.1:n.83-310C>T
ENST00000454603.5:c.83-310C>T	ENSP00000402366.1:n.83-310C>T
ENST00000455008.5:c.83-310C>T	ENSP00000405917.1:n.83-310C>T
ENST00000456864.5:c.83-310C>T	ENSP00000394255.1:n.83-310C>T
ENST00000485013.1:n.60C>T
ENST00000493875.5:c.83-310C>T	ENSP00000434696.1:n.83-310C>T
ENST00000625689.2:c.83-310C>T	ENSP00000486612.1:n.83-310C>T
NM_000817.2:c.83-310C>T	NP_000808.2:n.83-310C>T
NM_013445.3:c.83-310C>T	NP_038473.2:n.83-310C>T
XM_005246444.2:c.83-310C>T	XP_005246501.1:n.83-310C>T
XM_011510922.1:c.83-310C>T	XP_011509224.1:n.83-310C>T
XM_005246444.3:c.83-310C>T	XP_005246501.1:n.83-310C>T
XM_017003756.1:c.83-310C>T	XP_016859245.1:n.83-310C>T
XM_017003757.2:c.83-310C>T	XP_016859246.1:n.83-310C>T
XM_017003758.2:c.83-310C>T	XP_016859247.1:n.83-310C>T
NM_000817.3:c.83-310C>T MANE Select	NP_000808.2:n.83-310C>T
NM_013445.4:c.83-310C>T	NP_038473.2:n.83-310C>T