Canonical Allele Identifier: CA690907386
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1303767753
gnomAD v3: 12-6471484-T-C
gnomAD v4: 12-6471484-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471484T>C , CM000674.2:g.6471484T>C GRCh38
NC_000012.11:g.6580650T>C , CM000674.1:g.6580650T>C GRCh37
NC_000012.10:g.6450911T>C NCBI36
NG_042188.1:g.4416A>G
NG_042188.2:g.4416A>G

Transcript Alleles

HGVS Amino-acid change
XR_001748777.2:n.2751T>C
XR_001748778.2:n.2748T>C