Canonical Allele Identifier: CA60589404
Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1032898334
gnomAD v3: 2-170813496-G-A
gnomAD v4: 2-170813496-G-A
MyVariant Identifiers: chr2:g.171670006G>A (hg19) chr2:g.170813496G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170813496G>A , CM000664.2:g.170813496G>A GRCh38
NC_000002.11:g.171670006G>A , CM000664.1:g.171670006G>A GRCh37
NC_000002.10:g.171378252G>A NCBI36
NG_021477.1:g.1807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000454603.5:c.-64+74G>A ENSP00000402366.1:n.-64+74G>A
XM_011510922.1:c.-64+74G>A XP_011509224.1:n.-64+74G>A
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