Canonical Allele Identifier: CA480263919
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57962790G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569007G>A , CM000674.2:g.57569007G>A GRCh38
NC_000012.11:g.57962790G>A , CM000674.1:g.57962790G>A GRCh37
NC_000012.10:g.56249057G>A NCBI36
NG_008155.1:g.23944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.759G>A MANE Select ENSP00000408979.2:p.Lys253=
ENST00000674619.1:c.759G>A ENSP00000502270.1:p.Lys253=
ENST00000676457.1:c.654G>A ENSP00000501588.1:p.Lys218=
ENST00000286452.5:c.492G>A ENSP00000286452.5:p.Lys164=
ENST00000455537.6:c.759G>A ENSP00000408979.2:p.Lys253=
NM_004984.2:c.759G>A NP_004975.2:p.Lys253=
NM_001354705.1:c.492G>A NP_001341634.1:p.Lys164=
NM_004984.3:c.759G>A NP_004975.2:p.Lys253=
XR_002957324.1:n.992G>A
NM_004984.4:c.759G>A MANE Select NP_004975.2:p.Lys253=
NM_001354705.2:c.492G>A NP_001341634.1:p.Lys164=