Canonical Allele Identifier: CA130087
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 37129
ClinVar RCV Id: RCV000030760 RCV000168349 RCV001196631 RCV001682718 RCV002468980 RCV003974863
dbSNP Id: rs387907287
MyVariant Identifiers: chr12:g.57961298G>A (hg19) chr12:g.57567515G>A (hg38)
PubMed: PMID:18853458 PMID:21623771 PMID:25008398
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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
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