Canonical Allele Identifier: CA232348923
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs920229531
gnomAD v3: 12-6471279-C-A
gnomAD v4: 12-6471279-C-A
MyVariant Identifiers: chr12:g.6580445C>A (hg19) chr12:g.6471279C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471279C>A , CM000674.2:g.6471279C>A GRCh38
NC_000012.11:g.6580445C>A , CM000674.1:g.6580445C>A GRCh37
NC_000012.10:g.6450706C>A NCBI36
NG_042188.1:g.4621G>T
NG_042188.2:g.4621G>T

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2546C>A
XR_001748778.2:n.2543C>A
Search 100 bp 5'
Search 100 bp 3'