Canonical Allele Identifier: CA385499776

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962746G>A (hg19) ; chr12:g.57568963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568963G>A , CM000674.2:g.57568963G>A	GRCh38
NC_000012.11:g.57962746G>A , CM000674.1:g.57962746G>A	GRCh37
NC_000012.10:g.56249013G>A	NCBI36
NG_008155.1:g.23900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715G>A MANE Select	ENSP00000408979.2:p.Val239Ile
ENST00000674619.1:c.715G>A	ENSP00000502270.1:p.Val239Ile
ENST00000676457.1:c.610G>A	ENSP00000501588.1:p.Val204Ile
ENST00000286452.5:c.448G>A	ENSP00000286452.5:p.Val150Ile
ENST00000455537.6:c.715G>A	ENSP00000408979.2:p.Val239Ile
NM_004984.2:c.715G>A	NP_004975.2:p.Val239Ile
NM_001354705.1:c.448G>A	NP_001341634.1:p.Val150Ile
NM_004984.3:c.715G>A	NP_004975.2:p.Val239Ile
XR_002957324.1:n.948G>A
NM_004984.4:c.715G>A MANE Select	NP_004975.2:p.Val239Ile
NM_001354705.2:c.448G>A	NP_001341634.1:p.Val150Ile