Canonical Allele Identifier: CA603113581

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1391998978
• gnomAD v2: 12-6580217-G-A
• gnomAD v3: 12-6471051-G-A
• gnomAD v4: 12-6471051-G-A
• MyVariant Identifiers: chr12:g.6580217G>A (hg19) ; chr12:g.6471051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471051G>A , CM000674.2:g.6471051G>A	GRCh38
NC_000012.11:g.6580217G>A , CM000674.1:g.6580217G>A	GRCh37
NC_000012.10:g.6450478G>A	NCBI36
NG_042188.1:g.4849C>T
NG_042188.2:g.4849C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2318G>A
XR_001748778.2:n.2315G>A