Canonical Allele Identifier: CA2014090934
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1945770707
gnomAD v3: 12-6471452-T-C
gnomAD v4: 12-6471452-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471452T>C , CM000674.2:g.6471452T>C GRCh38
NC_000012.11:g.6580618T>C , CM000674.1:g.6580618T>C GRCh37
NC_000012.10:g.6450879T>C NCBI36
NG_042188.1:g.4448A>G
NG_042188.2:g.4448A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2719T>C
XR_001748778.2:n.2716T>C