Canonical Allele Identifier: CA8467329
Community Standard Title: NM_178170.3(NEK8):c.1177A>G (p.Ile393Val)
Gene: NEK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28738200A>G , CM000679.2:g.28738200A>G GRCh38
NC_000017.10:g.27065218A>G , CM000679.1:g.27065218A>G GRCh37
NC_000017.9:g.24089345A>G NCBI36
NG_012263.1:g.14387A>G

Transcript Alleles

HGVS Amino-acid Change
NM_178170.3:c.1177A>G MANE Select NP_835464.1:p.Ile393Val
ENST00000268766.11:c.1177A>G MANE Select ENSP00000268766.6:p.Ile393Val
NM_178170.2:c.1177A>G NP_835464.1:p.Ile393Val
ENST00000268766.10:c.1177A>G ENSP00000268766.6:p.Ile393Val
ENST00000543014.1:c.1337A>G ENSP00000465859.1:p.His446Arg
ENST00000592510.1:c.737A>G
XM_011524638.1:c.1288A>G XP_011522940.1:p.Ile430Val
XM_011524638.3:c.1288A>G XP_011522940.1:p.Ile430Val
XM_011524639.1:c.1261A>G XP_011522941.1:p.Ile421Val
XM_011524640.1:c.1249A>G XP_011522942.1:p.Ile417Val
XM_011524640.3:c.1249A>G XP_011522942.1:p.Ile417Val
XM_011524641.1:c.1144A>G XP_011522943.1:p.Ile382Val
XM_011524642.1:c.1144A>G XP_011522944.1:p.Ile382Val
XM_011524643.1:c.1144A>G XP_011522945.1:p.Ile382Val
XM_011524644.1:c.967A>G XP_011522946.1:p.Ile323Val
XM_011524645.1:c.1415A>G XP_011522947.1:p.His472Arg
XM_017024499.2:c.1216A>G XP_016879988.1:p.Ile406Val
XM_017024500.2:c.1099A>G XP_016879989.1:p.Ile367Val
XM_017024501.1:c.1409A>G XP_016879990.1:p.His470Arg
XR_001752497.2:n.1420A>G
XR_934448.1:n.1465A>G