Canonical Allele Identifier: CA118522

Gene: KIF5A

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

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