Canonical Allele Identifier: CA247124189

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs991593015
• gnomAD v2: 13-25457276-A-C
• MyVariant Identifiers: chr13:g.25457276A>C (hg19) ; chr13:g.24883138A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883138A>C , CM000675.2:g.24883138A>C	GRCh38
NC_000013.10:g.25457276A>C , CM000675.1:g.25457276A>C	GRCh37
NC_000013.9:g.24355276A>C	NCBI36
NG_009165.2:g.44810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*39T>G (CENPJ) MANE Select	ENSP00000371308.4:n.*39T>G
ENST00000381884.8:c.*39T>G (CENPJ)	ENSP00000371308.4:n.*39T>G
ENST00000616936.4:c.*710T>G (CENPJ)	ENSP00000477511.1:n.*710T>G
NM_018451.4:c.*39T>G (CENPJ)	NP_060921.3:n.*39T>G
NR_047594.1:n.4368T>G (CENPJ)
NR_047595.1:n.4166T>G (CENPJ)
XM_011535156.1:c.*10+3843A>C (RNF17)	XP_011533458.1:n.*10+3843A>C
XM_011535156.2:c.*10+3843A>C (RNF17)	XP_011533458.1:n.*10+3843A>C
NM_018451.5:c.*39T>G (CENPJ) MANE Select	NP_060921.3:n.*39T>G
NR_047594.2:n.4340T>G (CENPJ)
NR_047595.2:n.4138T>G (CENPJ)