Canonical Allele Identifier: CA409258817

Gene: TP53RK

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

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