Canonical Allele Identifier: CA10643135
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

ClinVar Variation Id: 311600
ClinVar RCV Id: RCV000266116 RCV000321219
dbSNP Id: rs886050094
gnomAD v2: 13-25457012-G-T
gnomAD v3: 13-24882874-G-T
gnomAD v4: 13-24882874-G-T
MyVariant Identifiers: chr13:g.25457012G>T (hg19) chr13:g.25457012_25457013delinsTT (hg19) chr13:g.24882874G>T (hg38) chr13:g.24882874_24882875delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882874G>T , CM000675.2:g.24882874G>T GRCh38
NC_000013.10:g.25457012G>T , CM000675.1:g.25457012G>T GRCh37
NC_000013.9:g.24355012G>T NCBI36
NG_009165.2:g.45074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*303C>A (CENPJ) MANE Select ENSP00000371308.4:n.*303C>A
ENST00000616936.4:c.*974C>A (CENPJ) ENSP00000477511.1:n.*974C>A
NM_018451.4:c.*303C>A (CENPJ) NP_060921.3:n.*303C>A
NR_047594.1:n.4632C>A (CENPJ)
NR_047595.1:n.4430C>A (CENPJ)
XM_011535156.1:c.*10+3579G>T (RNF17) XP_011533458.1:n.*10+3579G>T
XM_011535156.2:c.*10+3579G>T (RNF17) XP_011533458.1:n.*10+3579G>T
NM_018451.5:c.*303C>A (CENPJ) MANE Select NP_060921.3:n.*303C>A
NR_047594.2:n.4604C>A (CENPJ)
NR_047595.2:n.4402C>A (CENPJ)
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