Canonical Allele Identifier: CA10639252
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.24882608T>C
GRCh37 chr13:g.25456746T>C
gnomAD v3:
13:24882608 T / C
gnomAD v4:
chr13-24882608-T-C
Joint Max Group AF 0.00170464 (SAS)
Genomes Max Group AF 0.00175262 (SAS)
ClinVar RCV:
RCV000321564
RCV000376262
ClinVar Variation:
311592
dbSNP:
544072060
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882608T>C , CM000675.2:g.24882608T>C GRCh38
NC_000013.10:g.25456746T>C , CM000675.1:g.25456746T>C GRCh37
NC_000013.9:g.24354746T>C NCBI36
NG_009165.2:g.45340A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*569A>G (CENPJ) MANE Select ENSP00000371308.4:n.*569A>G
ENST00000616936.4:c.*1240A>G (CENPJ) ENSP00000477511.1:n.*1240A>G
NM_018451.4:c.*569A>G (CENPJ) NP_060921.3:n.*569A>G
NR_047594.1:n.4898A>G (CENPJ)
NR_047595.1:n.4696A>G (CENPJ)
XM_011535156.1:c.*10+3313T>C (RNF17) XP_011533458.1:n.*10+3313T>C
XM_011535156.2:c.*10+3313T>C (RNF17) XP_011533458.1:n.*10+3313T>C
NM_018451.5:c.*569A>G (CENPJ) MANE Select NP_060921.3:n.*569A>G
NR_047594.2:n.4870A>G (CENPJ)
NR_047595.2:n.4668A>G (CENPJ)
Search 100 bp 5'
Search 100 bp 3'