Canonical Allele Identifier: CA760613769

Gene: GAD1

Linked Data

• dbSNP Id: rs1395280309
• gnomAD v3: 2-170814345-C-G
• gnomAD v4: 2-170814345-C-G
• MyVariant Identifiers: chr2:g.171670855C>G (hg19) ; chr2:g.170814345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170814345C>G , CM000664.2:g.170814345C>G	GRCh38
NC_000002.11:g.171670855C>G , CM000664.1:g.171670855C>G	GRCh37
NC_000002.10:g.171379101C>G	NCBI36
NG_021477.1:g.2656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454603.5:c.-64+923C>G	ENSP00000402366.1:n.-64+923C>G
XM_011510922.1:c.-64+923C>G	XP_011509224.1:n.-64+923C>G