Canonical Allele Identifier: CA385499927

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962774T>A (hg19) ; chr12:g.57568991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568991T>A , CM000674.2:g.57568991T>A	GRCh38
NC_000012.11:g.57962774T>A , CM000674.1:g.57962774T>A	GRCh37
NC_000012.10:g.56249041T>A	NCBI36
NG_008155.1:g.23928T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.743T>A MANE Select	ENSP00000408979.2:p.Val248Glu
ENST00000674619.1:c.743T>A	ENSP00000502270.1:p.Val248Glu
ENST00000676457.1:c.638T>A	ENSP00000501588.1:p.Val213Glu
ENST00000286452.5:c.476T>A	ENSP00000286452.5:p.Val159Glu
ENST00000455537.6:c.743T>A	ENSP00000408979.2:p.Val248Glu
NM_004984.2:c.743T>A	NP_004975.2:p.Val248Glu
NM_001354705.1:c.476T>A	NP_001341634.1:p.Val159Glu
NM_004984.3:c.743T>A	NP_004975.2:p.Val248Glu
XR_002957324.1:n.976T>A
NM_004984.4:c.743T>A MANE Select	NP_004975.2:p.Val248Glu
NM_001354705.2:c.476T>A	NP_001341634.1:p.Val159Glu