Canonical Allele Identifier: CA690907199
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1177268906
gnomAD v3: 12-6471111-T-G
gnomAD v4: 12-6471111-T-G
MyVariant Identifiers: chr12:g.6580277T>G (hg19) chr12:g.6471111T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471111T>G , CM000674.2:g.6471111T>G GRCh38
NC_000012.11:g.6580277T>G , CM000674.1:g.6580277T>G GRCh37
NC_000012.10:g.6450538T>G NCBI36
NG_042188.1:g.4789A>C
NG_042188.2:g.4789A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2378T>G
XR_001748778.2:n.2375T>G
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