Canonical Allele Identifier: CA760613795

Gene: GAD1

Linked Data

• dbSNP Id: rs1244159787
• gnomAD v3: 2-170814384-T-C
• gnomAD v4: 2-170814384-T-C
• MyVariant Identifiers: chr2:g.171670894T>C (hg19) ; chr2:g.170814384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170814384T>C , CM000664.2:g.170814384T>C	GRCh38
NC_000002.11:g.171670894T>C , CM000664.1:g.171670894T>C	GRCh37
NC_000002.10:g.171379140T>C	NCBI36
NG_021477.1:g.2695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454603.5:c.-64+962T>C	ENSP00000402366.1:n.-64+962T>C
XM_011510922.1:c.-64+962T>C	XP_011509224.1:n.-64+962T>C