Canonical Allele Identifier: CA603113623
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1255481953
gnomAD v2: 12-6580599-T-G
gnomAD v3: 12-6471433-T-G
gnomAD v4: 12-6471433-T-G
MyVariant Identifiers: chr12:g.6580599T>G (hg19) chr12:g.6471433T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471433T>G , CM000674.2:g.6471433T>G GRCh38
NC_000012.11:g.6580599T>G , CM000674.1:g.6580599T>G GRCh37
NC_000012.10:g.6450860T>G NCBI36
NG_042188.1:g.4467A>C
NG_042188.2:g.4467A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2700T>G
XR_001748778.2:n.2697T>G
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