Canonical Allele Identifier: CA60595210

Gene: GAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170818626C>T , CM000664.2:g.170818626C>T	GRCh38
NC_000002.11:g.171675136C>T , CM000664.1:g.171675136C>T	GRCh37
NC_000002.10:g.171383382C>T	NCBI36
NG_021477.1:g.6937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358196.8:c.35C>T MANE Select	ENSP00000350928.3:p.Ser12Phe
ENST00000344257.9:c.35C>T	ENSP00000341167.5:p.Ser12Phe
ENST00000358196.7:c.35C>T	ENSP00000350928.3:p.Ser12Phe
ENST00000375272.5:c.35C>T	ENSP00000364421.1:p.Ser12Phe
ENST00000414527.6:c.35C>T	ENSP00000403849.1:p.Ser12Phe
ENST00000429023.1:n.16C>T
ENST00000445006.5:c.35C>T	ENSP00000394948.1:p.Ser12Phe
ENST00000454603.5:c.35C>T	ENSP00000402366.1:p.Ser12Phe
ENST00000455008.5:c.35C>T	ENSP00000405917.1:p.Ser12Phe
ENST00000456864.5:c.35C>T	ENSP00000394255.1:p.Ser12Phe
ENST00000493875.5:c.35C>T	ENSP00000434696.1:p.Ser12Phe
ENST00000625689.2:c.35C>T	ENSP00000486612.1:p.Ser12Phe
NM_000817.2:c.35C>T	NP_000808.2:p.Ser12Phe
NM_013445.3:c.35C>T	NP_038473.2:p.Ser12Phe
XM_005246444.2:c.35C>T	XP_005246501.1:p.Ser12Phe
XM_011510922.1:c.35C>T	XP_011509224.1:p.Ser12Phe
XM_005246444.3:c.35C>T	XP_005246501.1:p.Ser12Phe
XM_017003756.1:c.35C>T	XP_016859245.1:p.Ser12Phe
XM_017003757.2:c.35C>T	XP_016859246.1:p.Ser12Phe
XM_017003758.2:c.35C>T	XP_016859247.1:p.Ser12Phe
NM_000817.3:c.35C>T MANE Select	NP_000808.2:p.Ser12Phe
NM_013445.4:c.35C>T	NP_038473.2:p.Ser12Phe