Canonical Allele Identifier: CA60589443

Gene: GAD1

Linked Data

• dbSNP Id: rs985651965
• gnomAD v3: 2-170813526-C-A
• gnomAD v4: 2-170813526-C-A
• MyVariant Identifiers: chr2:g.171670036C>A (hg19) ; chr2:g.170813526C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170813526C>A , CM000664.2:g.170813526C>A	GRCh38
NC_000002.11:g.171670036C>A , CM000664.1:g.171670036C>A	GRCh37
NC_000002.10:g.171378282C>A	NCBI36
NG_021477.1:g.1837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454603.5:c.-64+104C>A	ENSP00000402366.1:n.-64+104C>A
XM_011510922.1:c.-64+104C>A	XP_011509224.1:n.-64+104C>A