Canonical Allele Identifier: CA385512464

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57577726C>T , CM000674.2:g.57577726C>T	GRCh38
NC_000012.11:g.57971509C>T , CM000674.1:g.57971509C>T	GRCh37
NC_000012.10:g.56257776C>T	NCBI36
NG_008155.1:g.32663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2314C>T MANE Select	ENSP00000408979.2:p.Arg772Ter
ENST00000674619.1:c.2314C>T	ENSP00000502270.1:p.Arg772Ter
ENST00000675397.1:n.84C>T
ENST00000675882.1:n.1301C>T
ENST00000675929.1:n.872C>T
ENST00000675984.1:n.2384C>T
ENST00000676081.1:n.1959C>T
ENST00000676457.1:c.2209C>T	ENSP00000501588.1:p.Arg737Ter
ENST00000286452.5:c.2047C>T	ENSP00000286452.5:p.Arg683Ter
ENST00000455537.6:c.2314C>T	ENSP00000408979.2:p.Arg772Ter
NM_004984.2:c.2314C>T	NP_004975.2:p.Arg772Ter
NM_001354705.1:c.2047C>T	NP_001341634.1:p.Arg683Ter
NM_004984.3:c.2314C>T	NP_004975.2:p.Arg772Ter
XR_002957324.1:n.2547C>T
NM_004984.4:c.2314C>T MANE Select	NP_004975.2:p.Arg772Ter
NM_001354705.2:c.2047C>T	NP_001341634.1:p.Arg683Ter