Canonical Allele Identifier: CA10643136
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

ClinVar Variation Id: 311602
ClinVar RCV Id: RCV000315642 RCV000388817
dbSNP Id: rs886050095
gnomAD v3: 13-24882885-T-A
gnomAD v4: 13-24882885-T-A
MyVariant Identifiers: chr13:g.25457023T>A (hg19) chr13:g.24882885T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882885T>A , CM000675.2:g.24882885T>A GRCh38
NC_000013.10:g.25457023T>A , CM000675.1:g.25457023T>A GRCh37
NC_000013.9:g.24355023T>A NCBI36
NG_009165.2:g.45063A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*292A>T (CENPJ) MANE Select ENSP00000371308.4:n.*292A>T
ENST00000616936.4:c.*963A>T (CENPJ) ENSP00000477511.1:n.*963A>T
NM_018451.4:c.*292A>T (CENPJ) NP_060921.3:n.*292A>T
NR_047594.1:n.4621A>T (CENPJ)
NR_047595.1:n.4419A>T (CENPJ)
XM_011535156.1:c.*10+3590T>A (RNF17) XP_011533458.1:n.*10+3590T>A
XM_011535156.2:c.*10+3590T>A (RNF17) XP_011533458.1:n.*10+3590T>A
NM_018451.5:c.*292A>T (CENPJ) MANE Select NP_060921.3:n.*292A>T
NR_047594.2:n.4593A>T (CENPJ)
NR_047595.2:n.4391A>T (CENPJ)
Search 100 bp 5'
Search 100 bp 3'