Canonical Allele Identifier: CA690907396
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1379149411
gnomAD v3: 12-6471535-A-C
gnomAD v4: 12-6471535-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471535A>C , CM000674.2:g.6471535A>C GRCh38
NC_000012.11:g.6580701A>C , CM000674.1:g.6580701A>C GRCh37
NC_000012.10:g.6450962A>C NCBI36
NG_042188.1:g.4365T>G
NG_042188.2:g.4365T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2802A>C
XR_001748778.2:n.2799A>C