Canonical Allele Identifier: CA115024

Gene: NEK8

Linked Data

• ClinVar Variation Id: 1488
• ClinVar RCV Id: RCV000001553
• dbSNP Id: rs118204032
• MyVariant Identifiers: chr17:g.27065739C>T (hg19) ; chr17:g.28738721C>T (hg38)
• PubMed: PMID:18199800 ; PMID:23026745

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