Canonical Allele Identifier: CA690907239
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1382706786
gnomAD v3: 12-6471132-C-G
gnomAD v4: 12-6471132-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471132C>G , CM000674.2:g.6471132C>G GRCh38
NC_000012.11:g.6580298C>G , CM000674.1:g.6580298C>G GRCh37
NC_000012.10:g.6450559C>G NCBI36
NG_042188.1:g.4768G>C
NG_042188.2:g.4768G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2399C>G
XR_001748778.2:n.2396C>G