Canonical Allele Identifier: CA608685738

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1475965939
• gnomAD v2: 13-25457188-A-G
• gnomAD v3: 13-24883050-A-G
• gnomAD v4: 13-24883050-A-G
• MyVariant Identifiers: chr13:g.25457188A>G (hg19) ; chr13:g.24883050A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883050A>G , CM000675.2:g.24883050A>G	GRCh38
NC_000013.10:g.25457188A>G , CM000675.1:g.25457188A>G	GRCh37
NC_000013.9:g.24355188A>G	NCBI36
NG_009165.2:g.44898T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*127T>C (CENPJ) MANE Select	ENSP00000371308.4:n.*127T>C
ENST00000381884.8:c.*127T>C (CENPJ)	ENSP00000371308.4:n.*127T>C
ENST00000616936.4:c.*798T>C (CENPJ)	ENSP00000477511.1:n.*798T>C
NM_018451.4:c.*127T>C (CENPJ)	NP_060921.3:n.*127T>C
NR_047594.1:n.4456T>C (CENPJ)
NR_047595.1:n.4254T>C (CENPJ)
XM_011535156.1:c.*10+3755A>G (RNF17)	XP_011533458.1:n.*10+3755A>G
XM_011535156.2:c.*10+3755A>G (RNF17)	XP_011533458.1:n.*10+3755A>G
NM_018451.5:c.*127T>C (CENPJ) MANE Select	NP_060921.3:n.*127T>C
NR_047594.2:n.4428T>C (CENPJ)
NR_047595.2:n.4226T>C (CENPJ)