Canonical Allele Identifier: CA232348531
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs577821822
gnomAD v3: 12-6471011-G-C
gnomAD v4: 12-6471011-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471011G>C , CM000674.2:g.6471011G>C GRCh38
NC_000012.11:g.6580177G>C , CM000674.1:g.6580177G>C GRCh37
NC_000012.10:g.6450438G>C NCBI36
NG_042188.1:g.4889C>G
NG_042188.2:g.4889C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2278G>C
XR_001748778.2:n.2275G>C