Canonical Allele Identifier: CA14768135
Gene: PCNA HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.5118990G>A
GRCh37 chr20:g.5099636G>A
gnomAD v2:
20:5099636 G / A
gnomAD v3:
20:5118990 G / A
gnomAD v4:
chr20-5118990-G-A
Joint Max Group AF 0.62335605 (SAS)
Genomes Max Group AF 0.623575 (SAS)
Exomes Max Group AF 0.62183598 (SAS)
dbSNP:
25406
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5118990G>A , CM000682.2:g.5118990G>A GRCh38
NC_000020.10:g.5099636G>A , CM000682.1:g.5099636G>A GRCh37
NC_000020.9:g.5047636G>A NCBI36
NG_047066.1:g.12633C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379143.10:c.222-124C>T MANE Select ENSP00000368438.5:n.222-124C>T
ENST00000379143.9:c.222-124C>T ENSP00000368438.5:n.222-124C>T
ENST00000379160.3:c.222-124C>T ENSP00000368458.3:n.222-124C>T
NM_002592.2:c.222-124C>T NP_002583.1:n.222-124C>T
NM_182649.1:c.222-124C>T NP_872590.1:n.222-124C>T
NM_182649.2:c.222-124C>T MANE Select NP_872590.1:n.222-124C>T
Search 100 bp 5'
Search 100 bp 3'