Canonical Allele Identifier: CA954159580

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1953905842
• gnomAD v3: 13-24883047-G-A
• gnomAD v4: 13-24883047-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883047G>A , CM000675.2:g.24883047G>A	GRCh38
NC_000013.10:g.25457185G>A , CM000675.1:g.25457185G>A	GRCh37
NC_000013.9:g.24355185G>A	NCBI36
NG_009165.2:g.44901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*130C>T (CENPJ) MANE Select	ENSP00000371308.4:n.*130C>T
ENST00000381884.8:c.*130C>T (CENPJ)	ENSP00000371308.4:n.*130C>T
ENST00000616936.4:c.*801C>T (CENPJ)	ENSP00000477511.1:n.*801C>T
NM_018451.4:c.*130C>T (CENPJ)	NP_060921.3:n.*130C>T
NR_047594.1:n.4459C>T (CENPJ)
NR_047595.1:n.4257C>T (CENPJ)
XM_011535156.1:c.*10+3752G>A (RNF17)	XP_011533458.1:n.*10+3752G>A
XM_011535156.2:c.*10+3752G>A (RNF17)	XP_011533458.1:n.*10+3752G>A
NM_018451.5:c.*130C>T (CENPJ) MANE Select	NP_060921.3:n.*130C>T
NR_047594.2:n.4431C>T (CENPJ)
NR_047595.2:n.4229C>T (CENPJ)