Canonical Allele Identifier: CA944348420
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1945764288
gnomAD v4: 12-6471059-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471059C>T , CM000674.2:g.6471059C>T GRCh38
NC_000012.11:g.6580225C>T , CM000674.1:g.6580225C>T GRCh37
NC_000012.10:g.6450486C>T NCBI36
NG_042188.1:g.4841G>A
NG_042188.2:g.4841G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2326C>T
XR_001748778.2:n.2323C>T
Search 100 bp 5'
Search 100 bp 3'