Canonical Allele Identifier: CA10639264

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 311597
• ClinVar RCV Id: RCV000309693 ; RCV000401197 ; RCV001653528
• dbSNP Id: rs77868928
• gnomAD v2: 13-25456911-G-A
• gnomAD v3: 13-24882773-G-A
• gnomAD v4: 13-24882773-G-A
• MyVariant Identifiers: chr13:g.25456911G>A (hg19) ; chr13:g.24882773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882773G>A , CM000675.2:g.24882773G>A	GRCh38
NC_000013.10:g.25456911G>A , CM000675.1:g.25456911G>A	GRCh37
NC_000013.9:g.24354911G>A	NCBI36
NG_009165.2:g.45175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*404C>T (CENPJ) MANE Select	ENSP00000371308.4:n.*404C>T
ENST00000616936.4:c.*1075C>T (CENPJ)	ENSP00000477511.1:n.*1075C>T
NM_018451.4:c.*404C>T (CENPJ)	NP_060921.3:n.*404C>T
NR_047594.1:n.4733C>T (CENPJ)
NR_047595.1:n.4531C>T (CENPJ)
XM_011535156.1:c.*10+3478G>A (RNF17)	XP_011533458.1:n.*10+3478G>A
XM_011535156.2:c.*10+3478G>A (RNF17)	XP_011533458.1:n.*10+3478G>A
NM_018451.5:c.*404C>T (CENPJ) MANE Select	NP_060921.3:n.*404C>T
NR_047594.2:n.4705C>T (CENPJ)
NR_047595.2:n.4503C>T (CENPJ)