Canonical Allele Identifier: CA60590128
Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1042655239
gnomAD v3: 2-170814222-T-C
gnomAD v4: 2-170814222-T-C
MyVariant Identifiers: chr2:g.171670732T>C (hg19) chr2:g.170814222T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170814222T>C , CM000664.2:g.170814222T>C GRCh38
NC_000002.11:g.171670732T>C , CM000664.1:g.171670732T>C GRCh37
NC_000002.10:g.171378978T>C NCBI36
NG_021477.1:g.2533T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000454603.5:c.-64+800T>C ENSP00000402366.1:n.-64+800T>C
XM_011510922.1:c.-64+800T>C XP_011509224.1:n.-64+800T>C
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