Canonical Allele Identifier: CA480264797

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57572174G>A , CM000674.2:g.57572174G>A	GRCh38
NC_000012.11:g.57965957G>A , CM000674.1:g.57965957G>A	GRCh37
NC_000012.10:g.56252224G>A	NCBI36
NG_008155.1:g.27111G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.1476G>A MANE Select	NP_004975.2:p.Glu492=
ENST00000455537.7:c.1476G>A MANE Select	ENSP00000408979.2:p.Glu492=
NM_001354705.1:c.1209G>A	NP_001341634.1:p.Glu403=
NM_001354705.2:c.1209G>A	NP_001341634.1:p.Glu403=
NM_004984.2:c.1476G>A	NP_004975.2:p.Glu492=
NM_004984.3:c.1476G>A	NP_004975.2:p.Glu492=
ENST00000286452.5:c.1209G>A	ENSP00000286452.5:p.Glu403=
ENST00000455537.6:c.1476G>A	ENSP00000408979.2:p.Glu492=
ENST00000674619.1:c.1476G>A	ENSP00000502270.1:p.Glu492=
ENST00000675882.1:n.463G>A
ENST00000675929.1:n.34G>A
ENST00000675984.1:n.406G>A
ENST00000676081.1:n.622G>A
ENST00000676242.1:n.114G>A
ENST00000676352.1:c.114G>A	ENSP00000501978.1:p.Glu38=
ENST00000676457.1:c.1371G>A	ENSP00000501588.1:p.Glu457=
XR_002957324.1:n.1709G>A