Canonical Allele Identifier: CA2038925769
Community Standard Title: NM_004984.4(KIF5A):c.839G= (p.Arg280=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569275G= , CM000674.2:g.57569275G= GRCh38
NC_000012.11:g.57963058G= , CM000674.1:g.57963058G= GRCh37
NC_000012.10:g.56249325G= NCBI36
NG_008155.1:g.24212G=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.839G= MANE Select NP_004975.2:p.Arg280=
ENST00000455537.7:c.839G= MANE Select ENSP00000408979.2:p.Arg280=
NM_001354705.1:c.572G= NP_001341634.1:p.Arg191=
NM_001354705.2:c.572G= NP_001341634.1:p.Arg191=
NM_004984.2:c.839G= NP_004975.2:p.Arg280=
NM_004984.3:c.839G= NP_004975.2:p.Arg280=
ENST00000286452.5:c.572G= ENSP00000286452.5:p.Arg191=
ENST00000455537.6:c.839G= ENSP00000408979.2:p.Arg280=
ENST00000674619.1:c.839G= ENSP00000502270.1:p.Arg280=
ENST00000676457.1:c.734G= ENSP00000501588.1:p.Arg245=
XR_002957324.1:n.1072G=