Canonical Allele Identifier: CA2591016497
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs2137019451
gnomAD v3: 12-6471441-A-G
gnomAD v4: 12-6471441-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471441A>G , CM000674.2:g.6471441A>G GRCh38
NC_000012.11:g.6580607A>G , CM000674.1:g.6580607A>G GRCh37
NC_000012.10:g.6450868A>G NCBI36
NG_042188.1:g.4459T>C
NG_042188.2:g.4459T>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2708A>G
XR_001748778.2:n.2705A>G