Canonical Allele Identifier: CA480263903

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2014042
• ClinVar RCV Id: RCV002829834
• MyVariant Identifiers: chr12:g.57962766G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568983G>A , CM000674.2:g.57568983G>A	GRCh38
NC_000012.11:g.57962766G>A , CM000674.1:g.57962766G>A	GRCh37
NC_000012.10:g.56249033G>A	NCBI36
NG_008155.1:g.23920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.735G>A MANE Select	ENSP00000408979.2:p.Glu245=
ENST00000674619.1:c.735G>A	ENSP00000502270.1:p.Glu245=
ENST00000676457.1:c.630G>A	ENSP00000501588.1:p.Glu210=
ENST00000286452.5:c.468G>A	ENSP00000286452.5:p.Glu156=
ENST00000455537.6:c.735G>A	ENSP00000408979.2:p.Glu245=
NM_004984.2:c.735G>A	NP_004975.2:p.Glu245=
NM_001354705.1:c.468G>A	NP_001341634.1:p.Glu156=
NM_004984.3:c.735G>A	NP_004975.2:p.Glu245=
XR_002957324.1:n.968G>A
NM_004984.4:c.735G>A MANE Select	NP_004975.2:p.Glu245=
NM_001354705.2:c.468G>A	NP_001341634.1:p.Glu156=