Canonical Allele Identifier: CA385500572

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569293G>C , CM000674.2:g.57569293G>C	GRCh38
NC_000012.11:g.57963076G>C , CM000674.1:g.57963076G>C	GRCh37
NC_000012.10:g.56249343G>C	NCBI36
NG_008155.1:g.24230G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.857G>C MANE Select	NP_004975.2:p.Arg286Thr
ENST00000455537.7:c.857G>C MANE Select	ENSP00000408979.2:p.Arg286Thr
NM_001354705.1:c.590G>C	NP_001341634.1:p.Arg197Thr
NM_001354705.2:c.590G>C	NP_001341634.1:p.Arg197Thr
NM_004984.2:c.857G>C	NP_004975.2:p.Arg286Thr
NM_004984.3:c.857G>C	NP_004975.2:p.Arg286Thr
ENST00000286452.5:c.590G>C	ENSP00000286452.5:p.Arg197Thr
ENST00000455537.6:c.857G>C	ENSP00000408979.2:p.Arg286Thr
ENST00000674619.1:c.857G>C	ENSP00000502270.1:p.Arg286Thr
ENST00000676081.1:n.3G>C
ENST00000676457.1:c.752G>C	ENSP00000501588.1:p.Arg251Thr
XR_002957324.1:n.1090G>C