Canonical Allele Identifier: CA60590229

Gene: GAD1

Linked Data

• dbSNP Id: rs1031365046
• gnomAD v2: 2-171670841-C-T
• gnomAD v3: 2-170814331-C-T
• gnomAD v4: 2-170814331-C-T
• MyVariant Identifiers: chr2:g.171670841C>T (hg19) ; chr2:g.170814331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170814331C>T , CM000664.2:g.170814331C>T	GRCh38
NC_000002.11:g.171670841C>T , CM000664.1:g.171670841C>T	GRCh37
NC_000002.10:g.171379087C>T	NCBI36
NG_021477.1:g.2642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454603.5:c.-64+909C>T	ENSP00000402366.1:n.-64+909C>T
XM_011510922.1:c.-64+909C>T	XP_011509224.1:n.-64+909C>T