Canonical Allele Identifier: CA8467307
Community Standard Title: NM_178170.3(NEK8):c.1092C>T (p.Gly364=)
Gene: NEK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28738115C>T , CM000679.2:g.28738115C>T GRCh38
NC_000017.10:g.27065133C>T , CM000679.1:g.27065133C>T GRCh37
NC_000017.9:g.24089260C>T NCBI36
NG_012263.1:g.14302C>T

Transcript Alleles

HGVS Amino-acid Change
NM_178170.3:c.1092C>T MANE Select NP_835464.1:p.Gly364=
ENST00000268766.11:c.1092C>T MANE Select ENSP00000268766.6:p.Gly364=
NM_178170.2:c.1092C>T NP_835464.1:p.Gly364=
ENST00000268766.10:c.1092C>T ENSP00000268766.6:p.Gly364=
ENST00000543014.1:c.1252C>T ENSP00000465859.1:p.Arg418Trp
ENST00000592510.1:c.652C>T
XM_011524638.1:c.1203C>T XP_011522940.1:p.Gly401=
XM_011524638.3:c.1203C>T XP_011522940.1:p.Gly401=
XM_011524639.1:c.1176C>T XP_011522941.1:p.Gly392=
XM_011524640.1:c.1164C>T XP_011522942.1:p.Gly388=
XM_011524640.3:c.1164C>T XP_011522942.1:p.Gly388=
XM_011524641.1:c.1059C>T XP_011522943.1:p.Gly353=
XM_011524642.1:c.1059C>T XP_011522944.1:p.Gly353=
XM_011524643.1:c.1059C>T XP_011522945.1:p.Gly353=
XM_011524644.1:c.882C>T XP_011522946.1:p.Gly294=
XM_011524645.1:c.1330C>T XP_011522947.1:p.Arg444Trp
XM_017024499.2:c.1131C>T XP_016879988.1:p.Gly377=
XM_017024500.2:c.1014C>T XP_016879989.1:p.Gly338=
XM_017024501.1:c.1324C>T XP_016879990.1:p.Arg442Trp
XR_001752497.2:n.1335C>T
XR_934448.1:n.1380C>T