Canonical Allele Identifier: CA232348797

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1031258159
• gnomAD v3: 12-6471176-C-A
• gnomAD v4: 12-6471176-C-A
• MyVariant Identifiers: chr12:g.6580342C>A (hg19) ; chr12:g.6471176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471176C>A , CM000674.2:g.6471176C>A	GRCh38
NC_000012.11:g.6580342C>A , CM000674.1:g.6580342C>A	GRCh37
NC_000012.10:g.6450603C>A	NCBI36
NG_042188.1:g.4724G>T
NG_042188.2:g.4724G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2443C>A
XR_001748778.2:n.2440C>A