Canonical Allele Identifier: CA690907166
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1260058026
gnomAD v3: 12-6471091-C-A
gnomAD v4: 12-6471091-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471091C>A , CM000674.2:g.6471091C>A GRCh38
NC_000012.11:g.6580257C>A , CM000674.1:g.6580257C>A GRCh37
NC_000012.10:g.6450518C>A NCBI36
NG_042188.1:g.4809G>T
NG_042188.2:g.4809G>T

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2358C>A
XR_001748778.2:n.2355C>A