Canonical Allele Identifier: CA608685733
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

dbSNP Id: rs1213903815
gnomAD v2: 13-25457121-G-A
gnomAD v3: 13-24882983-G-A
gnomAD v4: 13-24882983-G-A
MyVariant Identifiers: chr13:g.25457121G>A (hg19) chr13:g.24882983G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24882983G>A , CM000675.2:g.24882983G>A GRCh38
NC_000013.10:g.25457121G>A , CM000675.1:g.25457121G>A GRCh37
NC_000013.9:g.24355121G>A NCBI36
NG_009165.2:g.44965C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*194C>T (CENPJ) MANE Select ENSP00000371308.4:n.*194C>T
ENST00000616936.4:c.*865C>T (CENPJ) ENSP00000477511.1:n.*865C>T
NM_018451.4:c.*194C>T (CENPJ) NP_060921.3:n.*194C>T
NR_047594.1:n.4523C>T (CENPJ)
NR_047595.1:n.4321C>T (CENPJ)
XM_011535156.1:c.*10+3688G>A (RNF17) XP_011533458.1:n.*10+3688G>A
XM_011535156.2:c.*10+3688G>A (RNF17) XP_011533458.1:n.*10+3688G>A
NM_018451.5:c.*194C>T (CENPJ) MANE Select NP_060921.3:n.*194C>T
NR_047594.2:n.4495C>T (CENPJ)
NR_047595.2:n.4293C>T (CENPJ)
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