Canonical Allele Identifier: CA13612702

Gene: TAPBPL

Linked Data

• dbSNP Id: rs10849465
• gnomAD v2: 12-6580365-T-C
• gnomAD v3: 12-6471199-T-C
• gnomAD v4: 12-6471199-T-C
• MyVariant Identifiers: chr12:g.6580365T>C (hg19) ; chr12:g.6471199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471199T>C , CM000674.2:g.6471199T>C	GRCh38
NC_000012.11:g.6580365T>C , CM000674.1:g.6580365T>C	GRCh37
NC_000012.10:g.6450626T>C	NCBI36
NG_042188.1:g.4701A>G
NG_042188.2:g.4701A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2466T>C
XR_001748778.2:n.2463T>C