Canonical Allele Identifier: CA944348567
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1592154338
gnomAD v3: 12-6471271-C-G
gnomAD v4: 12-6471271-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471271C>G , CM000674.2:g.6471271C>G GRCh38
NC_000012.11:g.6580437C>G , CM000674.1:g.6580437C>G GRCh37
NC_000012.10:g.6450698C>G NCBI36
NG_042188.1:g.4629G>C
NG_042188.2:g.4629G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2538C>G
XR_001748778.2:n.2535C>G