Canonical Allele Identifier: CA232348955
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs538196211
gnomAD v3: 12-6471350-A-G
gnomAD v4: 12-6471350-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471350A>G , CM000674.2:g.6471350A>G GRCh38
NC_000012.11:g.6580516A>G , CM000674.1:g.6580516A>G GRCh37
NC_000012.10:g.6450777A>G NCBI36
NG_042188.1:g.4550T>C
NG_042188.2:g.4550T>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2617A>G
XR_001748778.2:n.2614A>G