Canonical Allele Identifier: CA232348892
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs915662111
gnomAD v2: 12-6580395-C-G
gnomAD v3: 12-6471229-C-G
gnomAD v4: 12-6471229-C-G
MyVariant Identifiers: chr12:g.6580395C>G (hg19) chr12:g.6471229C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471229C>G , CM000674.2:g.6471229C>G GRCh38
NC_000012.11:g.6580395C>G , CM000674.1:g.6580395C>G GRCh37
NC_000012.10:g.6450656C>G NCBI36
NG_042188.1:g.4671G>C
NG_042188.2:g.4671G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2496C>G
XR_001748778.2:n.2493C>G
Search 100 bp 5'
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