Canonical Allele Identifier: CA115024
Gene: NEK8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488
ClinVar RCV Id: RCV000001553
dbSNP Id: rs118204032

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28738721C>T , CM000679.2:g.28738721C>T GRCh38
NC_000017.10:g.27065739C>T , CM000679.1:g.27065739C>T GRCh37
NC_000017.9:g.24089866C>T NCBI36
NG_012263.1:g.14908C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268766.11:c.1273C>T MANE Select ENSP00000268766.6:p.His425Tyr
ENST00000268766.10:c.1273C>T ENSP00000268766.6:p.His425Tyr
ENST00000543014.1:c.*50C>T ENSP00000465859.1:n.*50C>T
NM_178170.2:c.1273C>T NP_835464.1:p.His425Tyr
XM_011524638.1:c.1384C>T XP_011522940.1:p.His462Tyr
XM_011524639.1:c.1357C>T XP_011522941.1:p.His453Tyr
XM_011524640.1:c.1345C>T XP_011522942.1:p.His449Tyr
XM_011524641.1:c.1240C>T XP_011522943.1:p.His414Tyr
XM_011524642.1:c.1240C>T XP_011522944.1:p.His414Tyr
XM_011524643.1:c.1240C>T XP_011522945.1:p.His414Tyr
XM_011524644.1:c.1063C>T XP_011522946.1:p.His355Tyr
XM_011524645.1:c.*46C>T XP_011522947.1:n.*46C>T
XR_934448.1:n.1557C>T
NM_178170.3:c.1273C>T MANE Select NP_835464.1:p.His425Tyr
XM_011524638.3:c.1384C>T XP_011522940.1:p.His462Tyr
XM_011524640.3:c.1345C>T XP_011522942.1:p.His449Tyr
XM_017024499.2:c.1312C>T XP_016879988.1:p.His438Tyr
XM_017024500.2:c.1195C>T XP_016879989.1:p.His399Tyr
XM_017024501.1:c.*46C>T XP_016879990.1:n.*46C>T
XR_001752497.2:n.1512C>T