Canonical Allele Identifier: CA385500593

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57963082T>G (hg19) ; chr12:g.57569299T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569299T>G , CM000674.2:g.57569299T>G	GRCh38
NC_000012.11:g.57963082T>G , CM000674.1:g.57963082T>G	GRCh37
NC_000012.10:g.56249349T>G	NCBI36
NG_008155.1:g.24236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.863T>G MANE Select	ENSP00000408979.2:p.Leu288Arg
ENST00000674619.1:c.863T>G	ENSP00000502270.1:p.Leu288Arg
ENST00000676081.1:n.9T>G
ENST00000676457.1:c.758T>G	ENSP00000501588.1:p.Leu253Arg
ENST00000286452.5:c.596T>G	ENSP00000286452.5:p.Leu199Arg
ENST00000455537.6:c.863T>G	ENSP00000408979.2:p.Leu288Arg
NM_004984.2:c.863T>G	NP_004975.2:p.Leu288Arg
NM_001354705.1:c.596T>G	NP_001341634.1:p.Leu199Arg
NM_004984.3:c.863T>G	NP_004975.2:p.Leu288Arg
XR_002957324.1:n.1096T>G
NM_004984.4:c.863T>G MANE Select	NP_004975.2:p.Leu288Arg
NM_001354705.2:c.596T>G	NP_001341634.1:p.Leu199Arg