Canonical Allele Identifier: CA385499530

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 973760
• ClinVar RCV Id: RCV001250416
• dbSNP Id: rs1594915468
• MyVariant Identifiers: chr12:g.57961385T>A (hg19) ; chr12:g.57567602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567602T>A , CM000674.2:g.57567602T>A	GRCh38
NC_000012.11:g.57961385T>A , CM000674.1:g.57961385T>A	GRCh37
NC_000012.10:g.56247652T>A	NCBI36
NG_008155.1:g.22539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.698T>A MANE Select	ENSP00000408979.2:p.Leu233Gln
ENST00000674619.1:c.698T>A	ENSP00000502270.1:p.Leu233Gln
ENST00000676457.1:c.593T>A	ENSP00000501588.1:p.Leu198Gln
ENST00000286452.5:c.431T>A	ENSP00000286452.5:p.Leu144Gln
ENST00000455537.6:c.698T>A	ENSP00000408979.2:p.Leu233Gln
NM_004984.2:c.698T>A	NP_004975.2:p.Leu233Gln
NM_001354705.1:c.431T>A	NP_001341634.1:p.Leu144Gln
NM_004984.3:c.698T>A	NP_004975.2:p.Leu233Gln
XR_002957324.1:n.931T>A
NM_004984.4:c.698T>A MANE Select	NP_004975.2:p.Leu233Gln
NM_001354705.2:c.431T>A	NP_001341634.1:p.Leu144Gln