Canonical Allele Identifier: CA385500713

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569325C>T , CM000674.2:g.57569325C>T	GRCh38
NC_000012.11:g.57963108C>T , CM000674.1:g.57963108C>T	GRCh37
NC_000012.10:g.56249375C>T	NCBI36
NG_008155.1:g.24262C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.889C>T MANE Select	NP_004975.2:p.Arg297Trp
ENST00000455537.7:c.889C>T MANE Select	ENSP00000408979.2:p.Arg297Trp
NM_001354705.1:c.622C>T	NP_001341634.1:p.Arg208Trp
NM_001354705.2:c.622C>T	NP_001341634.1:p.Arg208Trp
NM_004984.2:c.889C>T	NP_004975.2:p.Arg297Trp
NM_004984.3:c.889C>T	NP_004975.2:p.Arg297Trp
ENST00000286452.5:c.622C>T	ENSP00000286452.5:p.Arg208Trp
ENST00000455537.6:c.889C>T	ENSP00000408979.2:p.Arg297Trp
ENST00000674619.1:c.889C>T	ENSP00000502270.1:p.Arg297Trp
ENST00000676081.1:n.35C>T
ENST00000676457.1:c.784C>T	ENSP00000501588.1:p.Arg262Trp
XR_002957324.1:n.1122C>T