Canonical Allele Identifier: CA130084
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 37127
dbSNP Id: rs387907285

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57568999G>A , CM000674.2:g.57568999G>A GRCh38
NC_000012.11:g.57962782G>A , CM000674.1:g.57962782G>A GRCh37
NC_000012.10:g.56249049G>A NCBI36
NG_008155.1:g.23936G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000455537.7:c.751G>A MANE Select ENSP00000408979.2:p.Glu251Lys
ENST00000674619.1:c.751G>A ENSP00000502270.1:p.Glu251Lys
ENST00000676457.1:c.646G>A ENSP00000501588.1:p.Glu216Lys
ENST00000286452.5:c.484G>A ENSP00000286452.5:p.Glu162Lys
ENST00000455537.6:c.751G>A ENSP00000408979.2:p.Glu251Lys
NM_004984.2:c.751G>A NP_004975.2:p.Glu251Lys
NM_001354705.1:c.484G>A NP_001341634.1:p.Glu162Lys
NM_004984.3:c.751G>A NP_004975.2:p.Glu251Lys
XR_002957324.1:n.984G>A
NM_004984.4:c.751G>A MANE Select NP_004975.2:p.Glu251Lys
NM_001354705.2:c.484G>A NP_001341634.1:p.Glu162Lys