Canonical Allele Identifier: CA8467213
Community Standard Title: NM_178170.3(NEK8):c.841G>A (p.Val281Met)
Gene: NEK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28737688G>A , CM000679.2:g.28737688G>A GRCh38
NC_000017.10:g.27064706G>A , CM000679.1:g.27064706G>A GRCh37
NC_000017.9:g.24088833G>A NCBI36
NG_012263.1:g.13875G>A

Transcript Alleles

HGVS Amino-acid Change
NM_178170.3:c.841G>A MANE Select NP_835464.1:p.Val281Met
ENST00000268766.11:c.841G>A MANE Select ENSP00000268766.6:p.Val281Met
NM_178170.2:c.841G>A NP_835464.1:p.Val281Met
ENST00000268766.10:c.841G>A ENSP00000268766.6:p.Val281Met
ENST00000543014.1:c.1001G>A ENSP00000465859.1:p.Arg334His
ENST00000592510.1:c.401G>A
XM_011524638.1:c.952G>A XP_011522940.1:p.Val318Met
XM_011524638.3:c.952G>A XP_011522940.1:p.Val318Met
XM_011524639.1:c.925G>A XP_011522941.1:p.Val309Met
XM_011524640.1:c.913G>A XP_011522942.1:p.Val305Met
XM_011524640.3:c.913G>A XP_011522942.1:p.Val305Met
XM_011524641.1:c.808G>A XP_011522943.1:p.Val270Met
XM_011524642.1:c.808G>A XP_011522944.1:p.Val270Met
XM_011524643.1:c.808G>A XP_011522945.1:p.Val270Met
XM_011524644.1:c.631G>A XP_011522946.1:p.Val211Met
XM_011524645.1:c.997G>A XP_011522947.1:p.Val333Met
XM_017024499.2:c.880G>A XP_016879988.1:p.Val294Met
XM_017024500.2:c.763G>A XP_016879989.1:p.Val255Met
XM_017024501.1:c.1073G>A XP_016879990.1:p.Arg358His
XR_001752497.2:n.1084G>A
XR_934448.1:n.1129G>A