Canonical Allele Identifier: CA247123982

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1001052954
• gnomAD v3: 13-24882849-G-C
• gnomAD v4: 13-24882849-G-C
• MyVariant Identifiers: chr13:g.25456987G>C (hg19) ; chr13:g.24882849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882849G>C , CM000675.2:g.24882849G>C	GRCh38
NC_000013.10:g.25456987G>C , CM000675.1:g.25456987G>C	GRCh37
NC_000013.9:g.24354987G>C	NCBI36
NG_009165.2:g.45099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*328C>G (CENPJ) MANE Select	ENSP00000371308.4:n.*328C>G
ENST00000616936.4:c.*999C>G (CENPJ)	ENSP00000477511.1:n.*999C>G
NM_018451.4:c.*328C>G (CENPJ)	NP_060921.3:n.*328C>G
NR_047594.1:n.4657C>G (CENPJ)
NR_047595.1:n.4455C>G (CENPJ)
XM_011535156.1:c.*10+3554G>C (RNF17)	XP_011533458.1:n.*10+3554G>C
XM_011535156.2:c.*10+3554G>C (RNF17)	XP_011533458.1:n.*10+3554G>C
NM_018451.5:c.*328C>G (CENPJ) MANE Select	NP_060921.3:n.*328C>G
NR_047594.2:n.4629C>G (CENPJ)
NR_047595.2:n.4427C>G (CENPJ)