Canonical Allele Identifier: CA409258817
Gene: TP53RK HGNC NCBI

Linked Data

ClinVar Variation Id: 444882
ClinVar RCV Id: RCV000513023
dbSNP Id: rs773814837
gnomAD v4: 20-46689290-C-T
MyVariant Identifiers: chr20:g.45317929C>T (hg19) chr20:g.46689290C>T (hg38)
PubMed: PMID:28805828
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46689290C>T , CM000682.2:g.46689290C>T GRCh38
NC_000020.10:g.45317929C>T , CM000682.1:g.45317929C>T GRCh37
NC_000020.9:g.44751336C>T NCBI36
NG_047182.1:g.196G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372114.4:c.125G>A MANE Select ENSP00000361186.3:p.Gly42Asp
ENST00000372102.3:c.125G>A ENSP00000361174.3:p.Gly42Asp
ENST00000372114.3:c.125G>A ENSP00000361186.3:p.Gly42Asp
NM_033550.3:c.125G>A NP_291028.3:p.Gly42Asp
NM_033550.4:c.125G>A MANE Select NP_291028.3:p.Gly42Asp
Search 100 bp 5'
Search 100 bp 3'