Canonical Allele Identifier: CA690907392
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1403750681
gnomAD v3: 12-6471523-C-A
gnomAD v4: 12-6471523-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471523C>A , CM000674.2:g.6471523C>A GRCh38
NC_000012.11:g.6580689C>A , CM000674.1:g.6580689C>A GRCh37
NC_000012.10:g.6450950C>A NCBI36
NG_042188.1:g.4377G>T
NG_042188.2:g.4377G>T

Transcript Alleles

HGVS Amino-acid change
XR_001748777.2:n.2790C>A
XR_001748778.2:n.2787C>A