Canonical Allele Identifier: CA2617271474
Gene: TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470993-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470993C>T , CM000674.2:g.6470993C>T GRCh38
NC_000012.11:g.6580159C>T , CM000674.1:g.6580159C>T GRCh37
NC_000012.10:g.6450420C>T NCBI36
NG_042188.1:g.4907G>A
NG_042188.2:g.4907G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2260C>T
XR_001748778.2:n.2257C>T