Canonical Allele Identifier: CA385499922

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962773G>C (hg19) ; chr12:g.57568990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568990G>C , CM000674.2:g.57568990G>C	GRCh38
NC_000012.11:g.57962773G>C , CM000674.1:g.57962773G>C	GRCh37
NC_000012.10:g.56249040G>C	NCBI36
NG_008155.1:g.23927G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.742G>C MANE Select	ENSP00000408979.2:p.Val248Leu
ENST00000674619.1:c.742G>C	ENSP00000502270.1:p.Val248Leu
ENST00000676457.1:c.637G>C	ENSP00000501588.1:p.Val213Leu
ENST00000286452.5:c.475G>C	ENSP00000286452.5:p.Val159Leu
ENST00000455537.6:c.742G>C	ENSP00000408979.2:p.Val248Leu
NM_004984.2:c.742G>C	NP_004975.2:p.Val248Leu
NM_001354705.1:c.475G>C	NP_001341634.1:p.Val159Leu
NM_004984.3:c.742G>C	NP_004975.2:p.Val248Leu
XR_002957324.1:n.975G>C
NM_004984.4:c.742G>C MANE Select	NP_004975.2:p.Val248Leu
NM_001354705.2:c.475G>C	NP_001341634.1:p.Val159Leu