Canonical Allele Identifier: CA690907072
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1223568721
gnomAD v3: 12-6471012-T-A
gnomAD v4: 12-6471012-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471012T>A , CM000674.2:g.6471012T>A GRCh38
NC_000012.11:g.6580178T>A , CM000674.1:g.6580178T>A GRCh37
NC_000012.10:g.6450439T>A NCBI36
NG_042188.1:g.4888A>T
NG_042188.2:g.4888A>T

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2279T>A
XR_001748778.2:n.2276T>A