Canonical Allele Identifier: CA690907297

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1166953125
• gnomAD v3: 12-6471246-G-C
• gnomAD v4: 12-6471246-G-C
• MyVariant Identifiers: chr12:g.6580412G>C (hg19) ; chr12:g.6471246G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471246G>C , CM000674.2:g.6471246G>C	GRCh38
NC_000012.11:g.6580412G>C , CM000674.1:g.6580412G>C	GRCh37
NC_000012.10:g.6450673G>C	NCBI36
NG_042188.1:g.4654C>G
NG_042188.2:g.4654C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2513G>C
XR_001748778.2:n.2510G>C