Canonical Allele Identifier: CA385499056

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567515G>T , CM000674.2:g.57567515G>T	GRCh38
NC_000012.11:g.57961298G>T , CM000674.1:g.57961298G>T	GRCh37
NC_000012.10:g.56247565G>T	NCBI36
NG_008155.1:g.22452G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.611G>T MANE Select	NP_004975.2:p.Arg204Leu
ENST00000455537.7:c.611G>T MANE Select	ENSP00000408979.2:p.Arg204Leu
NM_001354705.1:c.344G>T	NP_001341634.1:p.Arg115Leu
NM_001354705.2:c.344G>T	NP_001341634.1:p.Arg115Leu
NM_004984.2:c.611G>T	NP_004975.2:p.Arg204Leu
NM_004984.3:c.611G>T	NP_004975.2:p.Arg204Leu
ENST00000286452.5:c.344G>T	ENSP00000286452.5:p.Arg115Leu
ENST00000455537.6:c.611G>T	ENSP00000408979.2:p.Arg204Leu
ENST00000674619.1:c.611G>T	ENSP00000502270.1:p.Arg204Leu
ENST00000676457.1:c.506G>T	ENSP00000501588.1:p.Arg169Leu
XR_002957324.1:n.844G>T