Canonical Allele Identifier: CA2038937232
Community Standard Title: NM_004984.4(KIF5A):c.2263G= (p.Glu755=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57576825G= , CM000674.2:g.57576825G= GRCh38
NC_000012.11:g.57970608G= , CM000674.1:g.57970608G= GRCh37
NC_000012.10:g.56256875G= NCBI36
NG_008155.1:g.31762G=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.2263G= MANE Select NP_004975.2:p.Glu755=
ENST00000455537.7:c.2263G= MANE Select ENSP00000408979.2:p.Glu755=
NM_001354705.1:c.1996G= NP_001341634.1:p.Glu666=
NM_001354705.2:c.1996G= NP_001341634.1:p.Glu666=
NM_004984.2:c.2263G= NP_004975.2:p.Glu755=
NM_004984.3:c.2263G= NP_004975.2:p.Glu755=
ENST00000286452.5:c.1996G= ENSP00000286452.5:p.Glu666=
ENST00000455537.6:c.2263G= ENSP00000408979.2:p.Glu755=
ENST00000674619.1:c.2263G= ENSP00000502270.1:p.Glu755=
ENST00000675299.1:c.411G= ENSP00000501888.1:n.411G=
ENST00000675397.1:n.33G=
ENST00000675882.1:n.1250G=
ENST00000675929.1:n.821G=
ENST00000675984.1:n.2333G=
ENST00000676081.1:n.1908G=
ENST00000676457.1:c.2158G= ENSP00000501588.1:p.Glu720=
XR_002957324.1:n.2496G=