Canonical Allele Identifier: CA232348701
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs889948277
gnomAD v3: 12-6471129-G-A
gnomAD v4: 12-6471129-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471129G>A , CM000674.2:g.6471129G>A GRCh38
NC_000012.11:g.6580295G>A , CM000674.1:g.6580295G>A GRCh37
NC_000012.10:g.6450556G>A NCBI36
NG_042188.1:g.4771C>T
NG_042188.2:g.4771C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2396G>A
XR_001748778.2:n.2393G>A