Canonical Allele Identifier: CA385517105

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 504479
• ClinVar RCV Id: RCV000598752 ; RCV002531121 ; RCV003311856
• dbSNP Id: rs1555179087
• MyVariant Identifiers: chr12:g.57976411A>G (hg19) ; chr12:g.57582628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582628A>G , CM000674.2:g.57582628A>G	GRCh38
NC_000012.11:g.57976411A>G , CM000674.1:g.57976411A>G	GRCh37
NC_000012.10:g.56262678A>G	NCBI36
NG_008155.1:g.37565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.3019A>G MANE Select	ENSP00000408979.2:p.Arg1007Gly
ENST00000674619.1:c.3040A>G	ENSP00000502270.1:p.Arg1014Gly
ENST00000675201.1:n.27A>G
ENST00000675697.1:c.84-473A>G
ENST00000675737.1:n.1072A>G
ENST00000675866.1:c.27A>G
ENST00000675882.1:n.2542A>G
ENST00000675929.1:n.1577A>G
ENST00000676055.1:c.98A>G
ENST00000676265.1:n.27A>G
ENST00000676437.1:c.44A>G
ENST00000676457.1:c.2914A>G	ENSP00000501588.1:p.Arg972Gly
ENST00000286452.5:c.2752A>G	ENSP00000286452.5:p.Arg918Gly
ENST00000455537.6:c.3019A>G	ENSP00000408979.2:p.Arg1007Gly
ENST00000552227.1:n.302A>G
NM_004984.2:c.3019A>G	NP_004975.2:p.Arg1007Gly
NM_001354705.1:c.2752A>G	NP_001341634.1:p.Arg918Gly
NM_004984.3:c.3019A>G	NP_004975.2:p.Arg1007Gly
XR_002957324.1:n.3252A>G
NM_004984.4:c.3019A>G MANE Select	NP_004975.2:p.Arg1007Gly
NM_001354705.2:c.2752A>G	NP_001341634.1:p.Arg918Gly