Canonical Allele Identifier: CA385500019

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569011A>G , CM000674.2:g.57569011A>G	GRCh38
NC_000012.11:g.57962794A>G , CM000674.1:g.57962794A>G	GRCh37
NC_000012.10:g.56249061A>G	NCBI36
NG_008155.1:g.23948A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.763A>G MANE Select	NP_004975.2:p.Ile255Val
ENST00000455537.7:c.763A>G MANE Select	ENSP00000408979.2:p.Ile255Val
NM_001354705.1:c.496A>G	NP_001341634.1:p.Ile166Val
NM_001354705.2:c.496A>G	NP_001341634.1:p.Ile166Val
NM_004984.2:c.763A>G	NP_004975.2:p.Ile255Val
NM_004984.3:c.763A>G	NP_004975.2:p.Ile255Val
ENST00000286452.5:c.496A>G	ENSP00000286452.5:p.Ile166Val
ENST00000455537.6:c.763A>G	ENSP00000408979.2:p.Ile255Val
ENST00000674619.1:c.763A>G	ENSP00000502270.1:p.Ile255Val
ENST00000676457.1:c.658A>G	ENSP00000501588.1:p.Ile220Val
XR_002957324.1:n.996A>G