Canonical Allele Identifier: CA232348534

Gene: TAPBPL

Linked Data

• dbSNP Id: rs954374062
• gnomAD v4: 12-6471021-A-T
• MyVariant Identifiers: chr12:g.6580187A>T (hg19) ; chr12:g.6471021A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471021A>T , CM000674.2:g.6471021A>T	GRCh38
NC_000012.11:g.6580187A>T , CM000674.1:g.6580187A>T	GRCh37
NC_000012.10:g.6450448A>T	NCBI36
NG_042188.1:g.4879T>A
NG_042188.2:g.4879T>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2288A>T
XR_001748778.2:n.2285A>T