Canonical Allele Identifier: CA690907267

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1217009119
• gnomAD v3: 12-6471184-A-G
• gnomAD v4: 12-6471184-A-G
• MyVariant Identifiers: chr12:g.6580350A>G (hg19) ; chr12:g.6471184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471184A>G , CM000674.2:g.6471184A>G	GRCh38
NC_000012.11:g.6580350A>G , CM000674.1:g.6580350A>G	GRCh37
NC_000012.10:g.6450611A>G	NCBI36
NG_042188.1:g.4716T>C
NG_042188.2:g.4716T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2451A>G
XR_001748778.2:n.2448A>G