Canonical Allele Identifier: CA10644095
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

ClinVar Variation Id: 311603
ClinVar RCV Id: RCV000294732 RCV000349693
dbSNP Id: rs886050096
gnomAD v4: 13-24882910-C-T
MyVariant Identifiers: chr13:g.25457048C>T (hg19) chr13:g.24882910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882910C>T , CM000675.2:g.24882910C>T GRCh38
NC_000013.10:g.25457048C>T , CM000675.1:g.25457048C>T GRCh37
NC_000013.9:g.24355048C>T NCBI36
NG_009165.2:g.45038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*267G>A (CENPJ) MANE Select ENSP00000371308.4:n.*267G>A
ENST00000616936.4:c.*938G>A (CENPJ) ENSP00000477511.1:n.*938G>A
NM_018451.4:c.*267G>A (CENPJ) NP_060921.3:n.*267G>A
NR_047594.1:n.4596G>A (CENPJ)
NR_047595.1:n.4394G>A (CENPJ)
XM_011535156.1:c.*10+3615C>T (RNF17) XP_011533458.1:n.*10+3615C>T
XM_011535156.2:c.*10+3615C>T (RNF17) XP_011533458.1:n.*10+3615C>T
NM_018451.5:c.*267G>A (CENPJ) MANE Select NP_060921.3:n.*267G>A
NR_047594.2:n.4568G>A (CENPJ)
NR_047595.2:n.4366G>A (CENPJ)
Search 100 bp 5'
Search 100 bp 3'