Canonical Allele Identifier: CA2014090749
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1373440022
gnomAD v4: 12-6471114-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471114T>A , CM000674.2:g.6471114T>A GRCh38
NC_000012.11:g.6580280T>A , CM000674.1:g.6580280T>A GRCh37
NC_000012.10:g.6450541T>A NCBI36
NG_042188.1:g.4786A>T
NG_042188.2:g.4786A>T

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2381T>A
XR_001748778.2:n.2378T>A
Search 100 bp 5'
Search 100 bp 3'