Canonical Allele Identifier: CA480264011
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57962796C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569013C>A , CM000674.2:g.57569013C>A GRCh38
NC_000012.11:g.57962796C>A , CM000674.1:g.57962796C>A GRCh37
NC_000012.10:g.56249063C>A NCBI36
NG_008155.1:g.23950C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.765C>A MANE Select ENSP00000408979.2:p.Ile255=
ENST00000674619.1:c.765C>A ENSP00000502270.1:p.Ile255=
ENST00000676457.1:c.660C>A ENSP00000501588.1:p.Ile220=
ENST00000286452.5:c.498C>A ENSP00000286452.5:p.Ile166=
ENST00000455537.6:c.765C>A ENSP00000408979.2:p.Ile255=
NM_004984.2:c.765C>A NP_004975.2:p.Ile255=
NM_001354705.1:c.498C>A NP_001341634.1:p.Ile166=
NM_004984.3:c.765C>A NP_004975.2:p.Ile255=
XR_002957324.1:n.998C>A
NM_004984.4:c.765C>A MANE Select NP_004975.2:p.Ile255=
NM_001354705.2:c.498C>A NP_001341634.1:p.Ile166=