Canonical Allele Identifier: CA603113601
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1297156535
gnomAD v2: 12-6580279-C-T
gnomAD v3: 12-6471113-C-T
gnomAD v4: 12-6471113-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471113C>T , CM000674.2:g.6471113C>T GRCh38
NC_000012.11:g.6580279C>T , CM000674.1:g.6580279C>T GRCh37
NC_000012.10:g.6450540C>T NCBI36
NG_042188.1:g.4787G>A
NG_042188.2:g.4787G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2380C>T
XR_001748778.2:n.2377C>T