Canonical Allele Identifier: CA232348636
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs909826183
gnomAD v3: 12-6471096-C-T
gnomAD v4: 12-6471096-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471096C>T , CM000674.2:g.6471096C>T GRCh38
NC_000012.11:g.6580262C>T , CM000674.1:g.6580262C>T GRCh37
NC_000012.10:g.6450523C>T NCBI36
NG_042188.1:g.4804G>A
NG_042188.2:g.4804G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2363C>T
XR_001748778.2:n.2360C>T