Canonical Allele Identifier: CA690907238

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1378605494
• gnomAD v4: 12-6471127-C-T
• MyVariant Identifiers: chr12:g.6580293C>T (hg19) ; chr12:g.6471127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471127C>T , CM000674.2:g.6471127C>T	GRCh38
NC_000012.11:g.6580293C>T , CM000674.1:g.6580293C>T	GRCh37
NC_000012.10:g.6450554C>T	NCBI36
NG_042188.1:g.4773G>A
NG_042188.2:g.4773G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2394C>T
XR_001748778.2:n.2391C>T