Canonical Allele Identifier: CA247124027
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

dbSNP Id: rs1017589589
gnomAD v2: 13-25457078-T-G
gnomAD v3: 13-24882940-T-G
gnomAD v4: 13-24882940-T-G
MyVariant Identifiers: chr13:g.25457078T>G (hg19) chr13:g.24882940T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882940T>G , CM000675.2:g.24882940T>G GRCh38
NC_000013.10:g.25457078T>G , CM000675.1:g.25457078T>G GRCh37
NC_000013.9:g.24355078T>G NCBI36
NG_009165.2:g.45008A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*237A>C (CENPJ) MANE Select ENSP00000371308.4:n.*237A>C
ENST00000616936.4:c.*908A>C (CENPJ) ENSP00000477511.1:n.*908A>C
NM_018451.4:c.*237A>C (CENPJ) NP_060921.3:n.*237A>C
NR_047594.1:n.4566A>C (CENPJ)
NR_047595.1:n.4364A>C (CENPJ)
XM_011535156.1:c.*10+3645T>G (RNF17) XP_011533458.1:n.*10+3645T>G
XM_011535156.2:c.*10+3645T>G (RNF17) XP_011533458.1:n.*10+3645T>G
NM_018451.5:c.*237A>C (CENPJ) MANE Select NP_060921.3:n.*237A>C
NR_047594.2:n.4538A>C (CENPJ)
NR_047595.2:n.4336A>C (CENPJ)
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