Canonical Allele Identifier: CA232348945
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs75989466
gnomAD v2: 12-6580494-C-T
gnomAD v3: 12-6471328-C-T
gnomAD v4: 12-6471328-C-T
MyVariant Identifiers: chr12:g.6580494C>T (hg19) chr12:g.6471328C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471328C>T , CM000674.2:g.6471328C>T GRCh38
NC_000012.11:g.6580494C>T , CM000674.1:g.6580494C>T GRCh37
NC_000012.10:g.6450755C>T NCBI36
NG_042188.1:g.4572G>A
NG_042188.2:g.4572G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2595C>T
XR_001748778.2:n.2592C>T
Search 100 bp 5'
Search 100 bp 3'