Canonical Allele Identifier: CA6653018

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57576327G>A , CM000674.2:g.57576327G>A	GRCh38
NC_000012.11:g.57970110G>A , CM000674.1:g.57970110G>A	GRCh37
NC_000012.10:g.56256377G>A	NCBI36
NG_008155.1:g.31264G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.2147G>A MANE Select	NP_004975.2:p.Arg716Gln
ENST00000455537.7:c.2147G>A MANE Select	ENSP00000408979.2:p.Arg716Gln
NM_001354705.1:c.1880G>A	NP_001341634.1:p.Arg627Gln
NM_001354705.2:c.1880G>A	NP_001341634.1:p.Arg627Gln
NM_004984.2:c.2147G>A	NP_004975.2:p.Arg716Gln
NM_004984.3:c.2147G>A	NP_004975.2:p.Arg716Gln
ENST00000286452.5:c.1880G>A	ENSP00000286452.5:p.Arg627Gln
ENST00000455537.6:c.2147G>A	ENSP00000408979.2:p.Arg716Gln
ENST00000674619.1:c.2147G>A	ENSP00000502270.1:p.Arg716Gln
ENST00000675299.1:c.295G>A	ENSP00000501888.1:n.295G>A
ENST00000675882.1:n.1134G>A
ENST00000675929.1:n.705G>A
ENST00000675984.1:n.1835G>A
ENST00000676081.1:n.1410G>A
ENST00000676457.1:c.2042G>A	ENSP00000501588.1:p.Arg681Gln
XR_002957324.1:n.2380G>A