Canonical Allele Identifier: CA338467
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581428G>A , CM000674.2:g.57581428G>A GRCh38
NC_000012.11:g.57975211G>A , CM000674.1:g.57975211G>A GRCh37
NC_000012.10:g.56261478G>A NCBI36
NG_008155.1:g.36365G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2769G>A MANE Select ENSP00000408979.2:p.Arg923=
ENST00000674619.1:c.2790G>A ENSP00000502270.1:p.Arg930=
ENST00000674776.1:c.277G>A ENSP00000502434.1:n.277G>A
ENST00000675634.1:c.264G>A ENSP00000502231.1:p.Arg88=
ENST00000675737.1:n.173G>A
ENST00000675882.1:n.1991G>A
ENST00000675929.1:n.1327G>A
ENST00000676457.1:c.2664G>A ENSP00000501588.1:p.Arg888=
ENST00000286452.5:c.2502G>A ENSP00000286452.5:p.Arg834=
ENST00000455537.6:c.2769G>A ENSP00000408979.2:p.Arg923=
NM_004984.2:c.2769G>A NP_004975.2:p.Arg923=
NM_001354705.1:c.2502G>A NP_001341634.1:p.Arg834=
NM_004984.3:c.2769G>A NP_004975.2:p.Arg923=
XR_002957324.1:n.3002G>A
NM_004984.4:c.2769G>A MANE Select NP_004975.2:p.Arg923=
NM_001354705.2:c.2502G>A NP_001341634.1:p.Arg834=