Canonical Allele Identifier: CA385503023
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569648C>A , CM000674.2:g.57569648C>A GRCh38
NC_000012.11:g.57963431C>A , CM000674.1:g.57963431C>A GRCh37
NC_000012.10:g.56249698C>A NCBI36
NG_008155.1:g.24585C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.1082C>A MANE Select ENSP00000408979.2:p.Ala361Glu
ENST00000674619.1:c.1082C>A ENSP00000502270.1:p.Ala361Glu
ENST00000675882.1:n.69C>A
ENST00000676081.1:n.228C>A
ENST00000676457.1:c.977C>A ENSP00000501588.1:p.Ala326Glu
ENST00000286452.5:c.815C>A ENSP00000286452.5:p.Ala272Glu
ENST00000455537.6:c.1082C>A ENSP00000408979.2:p.Ala361Glu
NM_004984.2:c.1082C>A NP_004975.2:p.Ala361Glu
NM_001354705.1:c.815C>A NP_001341634.1:p.Ala272Glu
NM_004984.3:c.1082C>A NP_004975.2:p.Ala361Glu
XR_002957324.1:n.1315C>A
NM_004984.4:c.1082C>A MANE Select NP_004975.2:p.Ala361Glu
NM_001354705.2:c.815C>A NP_001341634.1:p.Ala272Glu