Canonical Allele Identifier: CA398423587

Gene: NEK8

Linked Data

• ClinVar Variation Id: 490179
• ClinVar RCV Id: RCV000582388
• dbSNP Id: rs1555563787
• MyVariant Identifiers: chr17:g.27061795A>G (hg19) ; chr17:g.28734777A>G (hg38)
• PubMed: PMID:26967905

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28734777A>G , CM000679.2:g.28734777A>G	GRCh38
NC_000017.10:g.27061795A>G , CM000679.1:g.27061795A>G	GRCh37
NC_000017.9:g.24085922A>G	NCBI36
NG_012263.1:g.10964A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268766.11:c.259A>G MANE Select	ENSP00000268766.6:p.Thr87Ala
ENST00000268766.10:c.259A>G	ENSP00000268766.6:p.Thr87Ala
ENST00000543014.1:c.259A>G	ENSP00000465859.1:p.Thr87Ala
ENST00000579060.5:c.142A>G	ENSP00000466896.1:p.Thr48Ala
ENST00000579671.5:c.142A>G	ENSP00000467335.1:p.Thr48Ala
ENST00000584342.5:n.296A>G
ENST00000593261.1:n.257A>G
NM_178170.2:c.259A>G	NP_835464.1:p.Thr87Ala
XM_011524638.1:c.331A>G	XP_011522940.1:p.Thr111Ala
XM_011524639.1:c.259A>G	XP_011522941.1:p.Thr87Ala
XM_011524640.1:c.331A>G	XP_011522942.1:p.Thr111Ala
XM_011524641.1:c.142A>G	XP_011522943.1:p.Thr48Ala
XM_011524642.1:c.142A>G	XP_011522944.1:p.Thr48Ala
XM_011524643.1:c.142A>G	XP_011522945.1:p.Thr48Ala
XM_011524644.1:c.15A>G	XP_011522946.1:p.Ala5=
XM_011524645.1:c.331A>G	XP_011522947.1:p.Thr111Ala
XR_934448.1:n.463A>G
NM_178170.3:c.259A>G MANE Select	NP_835464.1:p.Thr87Ala
XM_011524638.3:c.331A>G	XP_011522940.1:p.Thr111Ala
XM_011524640.3:c.331A>G	XP_011522942.1:p.Thr111Ala
XM_017024499.2:c.259A>G	XP_016879988.1:p.Thr87Ala
XM_017024500.2:c.142A>G	XP_016879989.1:p.Thr48Ala
XM_017024501.1:c.331A>G	XP_016879990.1:p.Thr111Ala
XR_001752497.2:n.463A>G