Canonical Allele Identifier: CA480264129
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57963050T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569267T>A , CM000674.2:g.57569267T>A GRCh38
NC_000012.11:g.57963050T>A , CM000674.1:g.57963050T>A GRCh37
NC_000012.10:g.56249317T>A NCBI36
NG_008155.1:g.24204T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.831T>A MANE Select ENSP00000408979.2:p.Val277=
ENST00000674619.1:c.831T>A ENSP00000502270.1:p.Val277=
ENST00000676457.1:c.726T>A ENSP00000501588.1:p.Val242=
ENST00000286452.5:c.564T>A ENSP00000286452.5:p.Val188=
ENST00000455537.6:c.831T>A ENSP00000408979.2:p.Val277=
NM_004984.2:c.831T>A NP_004975.2:p.Val277=
NM_001354705.1:c.564T>A NP_001341634.1:p.Val188=
NM_004984.3:c.831T>A NP_004975.2:p.Val277=
XR_002957324.1:n.1064T>A
NM_004984.4:c.831T>A MANE Select NP_004975.2:p.Val277=
NM_001354705.2:c.564T>A NP_001341634.1:p.Val188=