Canonical Allele Identifier: CA944348601

Gene: TAPBPL

Linked Data

• dbSNP Id: rs189268835
• gnomAD v3: 12-6471463-T-C
• gnomAD v4: 12-6471463-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471463T>C , CM000674.2:g.6471463T>C	GRCh38
NC_000012.11:g.6580629T>C , CM000674.1:g.6580629T>C	GRCh37
NC_000012.10:g.6450890T>C	NCBI36
NG_042188.1:g.4437A>G
NG_042188.2:g.4437A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2730T>C
XR_001748778.2:n.2727T>C