Canonical Allele Identifier: CA690907355
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1426994476
gnomAD v3: 12-6471387-C-T
gnomAD v4: 12-6471387-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471387C>T , CM000674.2:g.6471387C>T GRCh38
NC_000012.11:g.6580553C>T , CM000674.1:g.6580553C>T GRCh37
NC_000012.10:g.6450814C>T NCBI36
NG_042188.1:g.4513G>A
NG_042188.2:g.4513G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2654C>T
XR_001748778.2:n.2651C>T