Canonical Allele Identifier: CA385499845

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 989069
• ClinVar RCV Id: RCV001391457
• dbSNP Id: rs2140162541
• MyVariant Identifiers: chr12:g.57962759G>A (hg19) ; chr12:g.57568976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568976G>A , CM000674.2:g.57568976G>A	GRCh38
NC_000012.11:g.57962759G>A , CM000674.1:g.57962759G>A	GRCh37
NC_000012.10:g.56249026G>A	NCBI36
NG_008155.1:g.23913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.728G>A MANE Select	ENSP00000408979.2:p.Gly243Glu
ENST00000674619.1:c.728G>A	ENSP00000502270.1:p.Gly243Glu
ENST00000676457.1:c.623G>A	ENSP00000501588.1:p.Gly208Glu
ENST00000286452.5:c.461G>A	ENSP00000286452.5:p.Gly154Glu
ENST00000455537.6:c.728G>A	ENSP00000408979.2:p.Gly243Glu
NM_004984.2:c.728G>A	NP_004975.2:p.Gly243Glu
NM_001354705.1:c.461G>A	NP_001341634.1:p.Gly154Glu
NM_004984.3:c.728G>A	NP_004975.2:p.Gly243Glu
XR_002957324.1:n.961G>A
NM_004984.4:c.728G>A MANE Select	NP_004975.2:p.Gly243Glu
NM_001354705.2:c.461G>A	NP_001341634.1:p.Gly154Glu