Canonical Allele Identifier: CA232348993
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs752955710
gnomAD v3: 12-6471393-C-T
gnomAD v4: 12-6471393-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471393C>T , CM000674.2:g.6471393C>T GRCh38
NC_000012.11:g.6580559C>T , CM000674.1:g.6580559C>T GRCh37
NC_000012.10:g.6450820C>T NCBI36
NG_042188.1:g.4507G>A
NG_042188.2:g.4507G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2660C>T
XR_001748778.2:n.2657C>T