Canonical Allele Identifier: CA8467082

Gene: NEK8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28734945G>A , CM000679.2:g.28734945G>A	GRCh38
NC_000017.10:g.27061963G>A , CM000679.1:g.27061963G>A	GRCh37
NC_000017.9:g.24086090G>A	NCBI36
NG_012263.1:g.11132G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_178170.3:c.427G>A MANE Select	NP_835464.1:p.Val143Ile
ENST00000268766.11:c.427G>A MANE Select	ENSP00000268766.6:p.Val143Ile
NM_178170.2:c.427G>A	NP_835464.1:p.Val143Ile
ENST00000268766.10:c.427G>A	ENSP00000268766.6:p.Val143Ile
ENST00000543014.1:c.427G>A	ENSP00000465859.1:p.Val143Ile
ENST00000579060.5:c.310G>A	ENSP00000466896.1:p.Val104Ile
ENST00000579671.5:c.310G>A	ENSP00000467335.1:p.Val104Ile
ENST00000584342.5:n.464G>A
ENST00000593261.1:n.425G>A
XM_011524638.1:c.499G>A	XP_011522940.1:p.Val167Ile
XM_011524638.3:c.499G>A	XP_011522940.1:p.Val167Ile
XM_011524639.1:c.427G>A	XP_011522941.1:p.Val143Ile
XM_011524640.1:c.499G>A	XP_011522942.1:p.Val167Ile
XM_011524640.3:c.499G>A	XP_011522942.1:p.Val167Ile
XM_011524641.1:c.310G>A	XP_011522943.1:p.Val104Ile
XM_011524642.1:c.310G>A	XP_011522944.1:p.Val104Ile
XM_011524643.1:c.310G>A	XP_011522945.1:p.Val104Ile
XM_011524644.1:c.183G>A	XP_011522946.1:p.Ser61=
XM_011524645.1:c.499G>A	XP_011522947.1:p.Val167Ile
XM_017024499.2:c.427G>A	XP_016879988.1:p.Val143Ile
XM_017024500.2:c.310G>A	XP_016879989.1:p.Val104Ile
XM_017024501.1:c.499G>A	XP_016879990.1:p.Val167Ile
XR_001752497.2:n.631G>A
XR_934448.1:n.631G>A