Canonical Allele Identifier: CA8467366

Gene: NEK8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28738699C>T , CM000679.2:g.28738699C>T	GRCh38
NC_000017.10:g.27065717C>T , CM000679.1:g.27065717C>T	GRCh37
NC_000017.9:g.24089844C>T	NCBI36
NG_012263.1:g.14886C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178170.3:c.1251C>T MANE Select	NP_835464.1:p.Ser417=
ENST00000268766.11:c.1251C>T MANE Select	ENSP00000268766.6:p.Ser417=
NM_178170.2:c.1251C>T	NP_835464.1:p.Ser417=
ENST00000268766.10:c.1251C>T	ENSP00000268766.6:p.Ser417=
ENST00000543014.1:c.*28C>T	ENSP00000465859.1:n.*28C>T
XM_011524638.1:c.1362C>T	XP_011522940.1:p.Ser454=
XM_011524638.3:c.1362C>T	XP_011522940.1:p.Ser454=
XM_011524639.1:c.1335C>T	XP_011522941.1:p.Ser445=
XM_011524640.1:c.1323C>T	XP_011522942.1:p.Ser441=
XM_011524640.3:c.1323C>T	XP_011522942.1:p.Ser441=
XM_011524641.1:c.1218C>T	XP_011522943.1:p.Ser406=
XM_011524642.1:c.1218C>T	XP_011522944.1:p.Ser406=
XM_011524643.1:c.1218C>T	XP_011522945.1:p.Ser406=
XM_011524644.1:c.1041C>T	XP_011522946.1:p.Ser347=
XM_011524645.1:c.*24C>T	XP_011522947.1:n.*24C>T
XM_017024499.2:c.1290C>T	XP_016879988.1:p.Ser430=
XM_017024500.2:c.1173C>T	XP_016879989.1:p.Ser391=
XM_017024501.1:c.*24C>T	XP_016879990.1:n.*24C>T
XR_001752497.2:n.1490C>T
XR_934448.1:n.1535C>T