Canonical Allele Identifier: CA7277297

Gene: NEK9

Linked Data

• ClinVar Variation Id: 730012
• ClinVar RCV Id: RCV000904745 ; RCV003923046
• dbSNP Id: rs143597394
• ExAC: 14:75590896 C / T
• gnomAD v2: 14-75590896-C-T
• gnomAD v3: 14-75124193-C-T
• gnomAD v4: 14-75124193-C-T
• MyVariant Identifiers: chr14:g.75590896C>T (hg19) ; chr14:g.75124193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75124193C>T , CM000676.2:g.75124193C>T	GRCh38
NC_000014.8:g.75590896C>T , CM000676.1:g.75590896C>T	GRCh37
NC_000014.7:g.74660649C>T	NCBI36
NG_051093.1:g.7888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238616.10:c.250G>A MANE Select	ENSP00000238616.5:p.Asp84Asn
ENST00000553823.6:c.250G>A	ENSP00000452537.2:p.Asp84Asn
ENST00000557673.6:c.250G>A	ENSP00000450943.2:p.Asp84Asn
ENST00000677411.1:n.376G>A
ENST00000678037.1:c.250G>A	ENSP00000504620.1:p.Asp84Asn
ENST00000678531.1:c.-105G>A	ENSP00000503827.1:n.-105G>A
ENST00000678749.1:c.-105G>A	ENSP00000504104.1:n.-105G>A
ENST00000238616.9:c.250G>A	ENSP00000238616.5:p.Asp84Asn
ENST00000553823.5:c.-105G>A	ENSP00000452537.1:n.-105G>A
ENST00000553945.1:c.-105G>A	ENSP00000452544.1:n.-105G>A
ENST00000554258.1:c.219+2510G>A	ENSP00000451604.1:n.219+2510G>A
ENST00000556170.5:n.374G>A
ENST00000557673.5:c.-105G>A	ENSP00000450943.1:n.-105G>A
NM_033116.4:c.250G>A	NP_149107.4:p.Asp84Asn
XM_005268208.1:c.250G>A	XP_005268265.1:p.Asp84Asn
XM_005268209.2:c.-105G>A	XP_005268266.1:n.-105G>A
NM_001329237.1:c.250G>A	NP_001316166.1:p.Asp84Asn
NM_001329238.1:c.-105G>A	NP_001316167.1:n.-105G>A
NM_033116.5:c.250G>A	NP_149107.4:p.Asp84Asn
XM_005268209.3:c.-105G>A	XP_005268266.1:n.-105G>A
XM_024449741.1:c.-105G>A	XP_024305509.1:n.-105G>A
NM_033116.6:c.250G>A MANE Select	NP_149107.4:p.Asp84Asn
NM_001329237.2:c.250G>A	NP_001316166.1:p.Asp84Asn
NM_001329238.2:c.-105G>A	NP_001316167.1:n.-105G>A