Canonical Allele Identifier: CA8467400
Community Standard Title: NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
Gene: NEK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28739100C>T , CM000679.2:g.28739100C>T GRCh38
NC_000017.10:g.27066118C>T , CM000679.1:g.27066118C>T GRCh37
NC_000017.9:g.24090245C>T NCBI36
NG_012263.1:g.15287C>T

Transcript Alleles

HGVS Amino-acid Change
NM_178170.3:c.1316C>T MANE Select NP_835464.1:p.Ala439Val
ENST00000268766.11:c.1316C>T MANE Select ENSP00000268766.6:p.Ala439Val
NM_178170.2:c.1316C>T NP_835464.1:p.Ala439Val
ENST00000268766.10:c.1316C>T ENSP00000268766.6:p.Ala439Val
ENST00000543014.1:c.*93C>T ENSP00000465859.1:n.*93C>T
XM_011524638.1:c.1427C>T XP_011522940.1:p.Ala476Val
XM_011524638.3:c.1427C>T XP_011522940.1:p.Ala476Val
XM_011524639.1:c.1400C>T XP_011522941.1:p.Ala467Val
XM_011524640.1:c.1388C>T XP_011522942.1:p.Ala463Val
XM_011524640.3:c.1388C>T XP_011522942.1:p.Ala463Val
XM_011524641.1:c.1283C>T XP_011522943.1:p.Ala428Val
XM_011524642.1:c.1283C>T XP_011522944.1:p.Ala428Val
XM_011524643.1:c.1283C>T XP_011522945.1:p.Ala428Val
XM_011524644.1:c.1106C>T XP_011522946.1:p.Ala369Val
XM_017024499.2:c.1355C>T XP_016879988.1:p.Ala452Val
XM_017024500.2:c.1238C>T XP_016879989.1:p.Ala413Val
XR_001752497.2:n.1555C>T
XR_934448.1:n.1600C>T