Canonical Allele Identifier: CA232348898
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs764840934
gnomAD v2: 12-6580441-A-T
gnomAD v3: 12-6471275-A-T
gnomAD v4: 12-6471275-A-T
MyVariant Identifiers: chr12:g.6580441A>T (hg19) chr12:g.6471275A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471275A>T , CM000674.2:g.6471275A>T GRCh38
NC_000012.11:g.6580441A>T , CM000674.1:g.6580441A>T GRCh37
NC_000012.10:g.6450702A>T NCBI36
NG_042188.1:g.4625T>A
NG_042188.2:g.4625T>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2542A>T
XR_001748778.2:n.2539A>T
Search 100 bp 5'
Search 100 bp 3'