Canonical Allele Identifier: CA603113587
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs928108962
gnomAD v2: 12-6580232-A-G
gnomAD v4: 12-6471066-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471066A>G , CM000674.2:g.6471066A>G GRCh38
NC_000012.11:g.6580232A>G , CM000674.1:g.6580232A>G GRCh37
NC_000012.10:g.6450493A>G NCBI36
NG_042188.1:g.4834T>C
NG_042188.2:g.4834T>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2333A>G
XR_001748778.2:n.2330A>G