Canonical Allele Identifier: CA385499979

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962783A>C (hg19) ; chr12:g.57569000A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569000A>C , CM000674.2:g.57569000A>C	GRCh38
NC_000012.11:g.57962783A>C , CM000674.1:g.57962783A>C	GRCh37
NC_000012.10:g.56249050A>C	NCBI36
NG_008155.1:g.23937A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.752A>C MANE Select	ENSP00000408979.2:p.Glu251Ala
ENST00000674619.1:c.752A>C	ENSP00000502270.1:p.Glu251Ala
ENST00000676457.1:c.647A>C	ENSP00000501588.1:p.Glu216Ala
ENST00000286452.5:c.485A>C	ENSP00000286452.5:p.Glu162Ala
ENST00000455537.6:c.752A>C	ENSP00000408979.2:p.Glu251Ala
NM_004984.2:c.752A>C	NP_004975.2:p.Glu251Ala
NM_001354705.1:c.485A>C	NP_001341634.1:p.Glu162Ala
NM_004984.3:c.752A>C	NP_004975.2:p.Glu251Ala
XR_002957324.1:n.985A>C
NM_004984.4:c.752A>C MANE Select	NP_004975.2:p.Glu251Ala
NM_001354705.2:c.485A>C	NP_001341634.1:p.Glu162Ala