Canonical Allele Identifier: CA232348929

Gene: TAPBPL

Linked Data

• dbSNP Id: rs184383668
• gnomAD v2: 12-6580464-C-A
• gnomAD v3: 12-6471298-C-A
• gnomAD v4: 12-6471298-C-A
• MyVariant Identifiers: chr12:g.6580464C>A (hg19) ; chr12:g.6471298C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471298C>A , CM000674.2:g.6471298C>A	GRCh38
NC_000012.11:g.6580464C>A , CM000674.1:g.6580464C>A	GRCh37
NC_000012.10:g.6450725C>A	NCBI36
NG_042188.1:g.4602G>T
NG_042188.2:g.4602G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2565C>A
XR_001748778.2:n.2562C>A