Canonical Allele Identifier: CA170059
Gene: PCNA HGNC NCBI

Linked Data

ClinVar Variation Id: 143043
ClinVar RCV Id: RCV000132551
dbSNP Id: rs369958038
gnomAD v2: 20-5096118-C-A
gnomAD v3: 20-5115472-C-A
gnomAD v4: 20-5115472-C-A
MyVariant Identifiers: chr20:g.5096118C>A (hg19) chr20:g.5115472C>A (hg38)
PubMed: PMID:24911150
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5115472C>A , CM000682.2:g.5115472C>A GRCh38
NC_000020.10:g.5096118C>A , CM000682.1:g.5096118C>A GRCh37
NC_000020.9:g.5044118C>A NCBI36
NG_047066.1:g.16151G>T
NG_053057.1:g.2616G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379143.10:c.683G>T MANE Select ENSP00000368438.5:p.Ser228Ile
ENST00000379143.9:c.683G>T ENSP00000368438.5:p.Ser228Ile
ENST00000379160.3:c.683G>T ENSP00000368458.3:p.Ser228Ile
NM_002592.2:c.683G>T NP_002583.1:p.Ser228Ile
NM_182649.1:c.683G>T NP_872590.1:p.Ser228Ile
NM_182649.2:c.683G>T MANE Select NP_872590.1:p.Ser228Ile
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