Canonical Allele Identifier: CA480263917
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57962787A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569004A>G , CM000674.2:g.57569004A>G GRCh38
NC_000012.11:g.57962787A>G , CM000674.1:g.57962787A>G GRCh37
NC_000012.10:g.56249054A>G NCBI36
NG_008155.1:g.23941A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.756A>G MANE Select ENSP00000408979.2:p.Ala252=
ENST00000674619.1:c.756A>G ENSP00000502270.1:p.Ala252=
ENST00000676457.1:c.651A>G ENSP00000501588.1:p.Ala217=
ENST00000286452.5:c.489A>G ENSP00000286452.5:p.Ala163=
ENST00000455537.6:c.756A>G ENSP00000408979.2:p.Ala252=
NM_004984.2:c.756A>G NP_004975.2:p.Ala252=
NM_001354705.1:c.489A>G NP_001341634.1:p.Ala163=
NM_004984.3:c.756A>G NP_004975.2:p.Ala252=
XR_002957324.1:n.989A>G
NM_004984.4:c.756A>G MANE Select NP_004975.2:p.Ala252=
NM_001354705.2:c.489A>G NP_001341634.1:p.Ala163=