Canonical Allele Identifier: CA690907144

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1479731192
• gnomAD v3: 12-6471079-G-T
• gnomAD v4: 12-6471079-G-T
• MyVariant Identifiers: chr12:g.6580245G>T (hg19) ; chr12:g.6471079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471079G>T , CM000674.2:g.6471079G>T	GRCh38
NC_000012.11:g.6580245G>T , CM000674.1:g.6580245G>T	GRCh37
NC_000012.10:g.6450506G>T	NCBI36
NG_042188.1:g.4821C>A
NG_042188.2:g.4821C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2346G>T
XR_001748778.2:n.2343G>T