Canonical Allele Identifier: CA118522
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 6808
ClinVar RCV Id: RCV000007210 RCV000518461 RCV000534416
dbSNP Id: rs121434443
MyVariant Identifiers: chr12:g.57963046A>G (hg19) chr12:g.57569263A>G (hg38)
PubMed: PMID:16489470
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569263A>G , CM000674.2:g.57569263A>G GRCh38
NC_000012.11:g.57963046A>G , CM000674.1:g.57963046A>G GRCh37
NC_000012.10:g.56249313A>G NCBI36
NG_008155.1:g.24200A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000455537.7:c.827A>G MANE Select ENSP00000408979.2:p.Tyr276Cys
ENST00000674619.1:c.827A>G ENSP00000502270.1:p.Tyr276Cys
ENST00000676457.1:c.722A>G ENSP00000501588.1:p.Tyr241Cys
ENST00000286452.5:c.560A>G ENSP00000286452.5:p.Tyr187Cys
ENST00000455537.6:c.827A>G ENSP00000408979.2:p.Tyr276Cys
NM_004984.2:c.827A>G NP_004975.2:p.Tyr276Cys
NM_001354705.1:c.560A>G NP_001341634.1:p.Tyr187Cys
NM_004984.3:c.827A>G NP_004975.2:p.Tyr276Cys
XR_002957324.1:n.1060A>G
NM_004984.4:c.827A>G MANE Select NP_004975.2:p.Tyr276Cys
NM_001354705.2:c.560A>G NP_001341634.1:p.Tyr187Cys
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