Canonical Allele Identifier: CA130087

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 37129
• ClinVar RCV Id: RCV000030760 ; RCV000168349 ; RCV001196631 ; RCV001682718 ; RCV002468980
• dbSNP Id: rs387907287
• MyVariant Identifiers: chr12:g.57961298G>A (hg19) ; chr12:g.57567515G>A (hg38)
• PubMed: PMID:18853458 ; PMID:21623771 ; PMID:25008398

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567515G>A , CM000674.2:g.57567515G>A	GRCh38
NC_000012.11:g.57961298G>A , CM000674.1:g.57961298G>A	GRCh37
NC_000012.10:g.56247565G>A	NCBI36
NG_008155.1:g.22452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.611G>A MANE Select	ENSP00000408979.2:p.Arg204Gln
ENST00000674619.1:c.611G>A	ENSP00000502270.1:p.Arg204Gln
ENST00000676457.1:c.506G>A	ENSP00000501588.1:p.Arg169Gln
ENST00000286452.5:c.344G>A	ENSP00000286452.5:p.Arg115Gln
ENST00000455537.6:c.611G>A	ENSP00000408979.2:p.Arg204Gln
NM_004984.2:c.611G>A	NP_004975.2:p.Arg204Gln
NM_001354705.1:c.344G>A	NP_001341634.1:p.Arg115Gln
NM_004984.3:c.611G>A	NP_004975.2:p.Arg204Gln
XR_002957324.1:n.844G>A
NM_004984.4:c.611G>A MANE Select	NP_004975.2:p.Arg204Gln
NM_001354705.2:c.344G>A	NP_001341634.1:p.Arg115Gln