Canonical Allele Identifier: CA16042938
Gene: NEK9 HGNC NCBI
ZC2HC1C HGNC NCBI

Linked Data

ClinVar Variation Id: 373374
ClinVar RCV Id: RCV000414495
dbSNP Id: rs1057518379

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75113369A>G , CM000676.2:g.75113369A>G GRCh38
NC_000014.8:g.75580072A>G , CM000676.1:g.75580072A>G GRCh37
NC_000014.7:g.74649825A>G NCBI36
NG_051093.1:g.18712T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000238616.10:c.908T>C (NEK9) MANE Select ENSP00000238616.5:p.Leu303Pro
ENST00000553823.6:c.908T>C (NEK9) ENSP00000452537.2:p.Leu303Pro
ENST00000557673.6:c.*344T>C (NEK9) ENSP00000450943.2:n.*344T>C
ENST00000673981.1:c.*224-3718A>G (ZC2HC1C) ENSP00000501014.1:n.*224-3718A>G
ENST00000677411.1:n.978T>C (NEK9)
ENST00000677700.1:c.37T>C (NEK9)
ENST00000678037.1:c.908T>C (NEK9) ENSP00000504620.1:p.Leu303Pro
ENST00000678531.1:c.554T>C (NEK9) ENSP00000503827.1:p.Leu185Pro
ENST00000678749.1:c.554T>C (NEK9) ENSP00000504104.1:p.Leu185Pro
ENST00000238616.9:c.908T>C (NEK9) ENSP00000238616.5:p.Leu303Pro
ENST00000556170.5:n.1032T>C (NEK9)
ENST00000557026.5:n.197T>C (NEK9)
NM_033116.4:c.908T>C (NEK9) NP_149107.4:p.Leu303Pro
XM_005268208.1:c.908T>C (NEK9) XP_005268265.1:p.Leu303Pro
XM_005268209.2:c.554T>C (NEK9) XP_005268266.1:p.Leu185Pro
NM_001329237.1:c.908T>C (NEK9) NP_001316166.1:p.Leu303Pro
NM_001329238.1:c.554T>C (NEK9) NP_001316167.1:p.Leu185Pro
NM_033116.5:c.908T>C (NEK9) NP_149107.4:p.Leu303Pro
XM_005268209.3:c.554T>C (NEK9) XP_005268266.1:p.Leu185Pro
XM_024449741.1:c.554T>C (NEK9) XP_024305509.1:p.Leu185Pro
NM_033116.6:c.908T>C (NEK9) MANE Select NP_149107.4:p.Leu303Pro
NM_001329237.2:c.908T>C (NEK9) NP_001316166.1:p.Leu303Pro
NM_001329238.2:c.554T>C (NEK9) NP_001316167.1:p.Leu185Pro