Canonical Allele Identifier: CA385499901

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568985G>T , CM000674.2:g.57568985G>T	GRCh38
NC_000012.11:g.57962768G>T , CM000674.1:g.57962768G>T	GRCh37
NC_000012.10:g.56249035G>T	NCBI36
NG_008155.1:g.23922G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.737G>T MANE Select	NP_004975.2:p.Gly246Val
ENST00000455537.7:c.737G>T MANE Select	ENSP00000408979.2:p.Gly246Val
NM_001354705.1:c.470G>T	NP_001341634.1:p.Gly157Val
NM_001354705.2:c.470G>T	NP_001341634.1:p.Gly157Val
NM_004984.2:c.737G>T	NP_004975.2:p.Gly246Val
NM_004984.3:c.737G>T	NP_004975.2:p.Gly246Val
ENST00000286452.5:c.470G>T	ENSP00000286452.5:p.Gly157Val
ENST00000455537.6:c.737G>T	ENSP00000408979.2:p.Gly246Val
ENST00000674619.1:c.737G>T	ENSP00000502270.1:p.Gly246Val
ENST00000676457.1:c.632G>T	ENSP00000501588.1:p.Gly211Val
XR_002957324.1:n.970G>T