Canonical Allele Identifier: CA1307082382

Gene: GAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170833611T>A , CM000664.2:g.170833611T>A	GRCh38
NC_000002.11:g.171690121T>A , CM000664.1:g.171690121T>A	GRCh37
NC_000002.10:g.171398367T>A	NCBI36
NG_021477.1:g.21922T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000817.3:c.547+2419T>A MANE Select	NP_000808.2:n.547+2419T>A
ENST00000358196.8:c.547+2419T>A MANE Select	ENSP00000350928.3:n.547+2419T>A
NM_000817.2:c.547+2419T>A	NP_000808.2:n.547+2419T>A
NM_013445.3:c.547+2419T>A	NP_038473.2:n.547+2419T>A
NM_013445.4:c.547+2419T>A	NP_038473.2:n.547+2419T>A
ENST00000344257.9:c.547+2419T>A	ENSP00000341167.5:n.547+2419T>A
ENST00000358196.7:c.547+2419T>A	ENSP00000350928.3:n.547+2419T>A
ENST00000375272.5:c.547+2419T>A	ENSP00000364421.1:n.547+2419T>A
ENST00000414527.6:c.547+2419T>A	ENSP00000403849.1:n.547+2419T>A
ENST00000429023.1:n.528+2419T>A
ENST00000493875.5:c.547+2419T>A	ENSP00000434696.1:n.547+2419T>A
ENST00000625689.2:c.547+2419T>A	ENSP00000486612.1:n.547+2419T>A
XM_005246444.2:c.547+2419T>A	XP_005246501.1:n.547+2419T>A
XM_005246444.3:c.547+2419T>A	XP_005246501.1:n.547+2419T>A
XM_011510922.1:c.547+2419T>A	XP_011509224.1:n.547+2419T>A
XM_017003756.1:c.547+2419T>A	XP_016859245.1:n.547+2419T>A
XM_017003757.2:c.547+2419T>A	XP_016859246.1:n.547+2419T>A
XM_017003758.2:c.547+2419T>A	XP_016859247.1:n.547+2419T>A