Canonical Allele Identifier: CA537694952
Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1314762870
gnomAD v2: 2-171669961-C-T
gnomAD v3: 2-170813451-C-T
gnomAD v4: 2-170813451-C-T
MyVariant Identifiers: chr2:g.171669961C>T (hg19) chr2:g.170813451C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170813451C>T , CM000664.2:g.170813451C>T GRCh38
NC_000002.11:g.171669961C>T , CM000664.1:g.171669961C>T GRCh37
NC_000002.10:g.171378207C>T NCBI36
NG_021477.1:g.1762C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000454603.5:c.-64+29C>T ENSP00000402366.1:n.-64+29C>T
XM_011510922.1:c.-64+29C>T XP_011509224.1:n.-64+29C>T
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