Canonical Allele Identifier: CA760622435

Gene: GAD1

Linked Data

• dbSNP Id: rs1488492669
• gnomAD v3: 2-170837108-C-G
• gnomAD v4: 2-170837108-C-G
• MyVariant Identifiers: chr2:g.171693618C>G (hg19) ; chr2:g.170837108C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170837108C>G , CM000664.2:g.170837108C>G	GRCh38
NC_000002.11:g.171693618C>G , CM000664.1:g.171693618C>G	GRCh37
NC_000002.10:g.171401864C>G	NCBI36
NG_021477.1:g.25419C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358196.8:c.638+225C>G MANE Select	ENSP00000350928.3:n.638+225C>G
ENST00000344257.9:c.638+225C>G	ENSP00000341167.5:n.638+225C>G
ENST00000358196.7:c.638+225C>G	ENSP00000350928.3:n.638+225C>G
ENST00000375272.5:c.638+225C>G	ENSP00000364421.1:n.638+225C>G
ENST00000414527.6:c.638+225C>G	ENSP00000403849.1:n.638+225C>G
ENST00000429023.1:n.619+225C>G
ENST00000493875.5:c.638+225C>G	ENSP00000434696.1:n.638+225C>G
ENST00000625689.2:c.638+225C>G	ENSP00000486612.1:n.638+225C>G
NM_000817.2:c.638+225C>G	NP_000808.2:n.638+225C>G
NM_013445.3:c.638+225C>G	NP_038473.2:n.638+225C>G
XM_005246444.2:c.638+225C>G	XP_005246501.1:n.638+225C>G
XM_011510922.1:c.638+225C>G	XP_011509224.1:n.638+225C>G
XM_005246444.3:c.638+225C>G	XP_005246501.1:n.638+225C>G
XM_017003756.1:c.638+225C>G	XP_016859245.1:n.638+225C>G
XM_017003757.2:c.638+225C>G	XP_016859246.1:n.638+225C>G
XM_017003758.2:c.638+225C>G	XP_016859247.1:n.638+225C>G
NM_000817.3:c.638+225C>G MANE Select	NP_000808.2:n.638+225C>G
NM_013445.4:c.638+225C>G	NP_038473.2:n.638+225C>G