Canonical Allele Identifier: CA690907204

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1176900023
• gnomAD v3: 12-6471115-C-G
• gnomAD v4: 12-6471115-C-G
• MyVariant Identifiers: chr12:g.6580281C>G (hg19) ; chr12:g.6471115C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471115C>G , CM000674.2:g.6471115C>G	GRCh38
NC_000012.11:g.6580281C>G , CM000674.1:g.6580281C>G	GRCh37
NC_000012.10:g.6450542C>G	NCBI36
NG_042188.1:g.4785G>C
NG_042188.2:g.4785G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2382C>G
XR_001748778.2:n.2379C>G