Canonical Allele Identifier: CA690907188
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs920279851
gnomAD v3: 12-6471106-T-C
gnomAD v4: 12-6471106-T-C
MyVariant Identifiers: chr12:g.6580272T>C (hg19) chr12:g.6471106T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471106T>C , CM000674.2:g.6471106T>C GRCh38
NC_000012.11:g.6580272T>C , CM000674.1:g.6580272T>C GRCh37
NC_000012.10:g.6450533T>C NCBI36
NG_042188.1:g.4794A>G
NG_042188.2:g.4794A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2373T>C
XR_001748778.2:n.2370T>C
Search 100 bp 5'
Search 100 bp 3'