Canonical Allele Identifier: CA480263838

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57961386G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567603G>A , CM000674.2:g.57567603G>A	GRCh38
NC_000012.11:g.57961386G>A , CM000674.1:g.57961386G>A	GRCh37
NC_000012.10:g.56247653G>A	NCBI36
NG_008155.1:g.22540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.699G>A MANE Select	ENSP00000408979.2:p.Leu233=
ENST00000674619.1:c.699G>A	ENSP00000502270.1:p.Leu233=
ENST00000676457.1:c.594G>A	ENSP00000501588.1:p.Leu198=
ENST00000286452.5:c.432G>A	ENSP00000286452.5:p.Leu144=
ENST00000455537.6:c.699G>A	ENSP00000408979.2:p.Leu233=
NM_004984.2:c.699G>A	NP_004975.2:p.Leu233=
NM_001354705.1:c.432G>A	NP_001341634.1:p.Leu144=
NM_004984.3:c.699G>A	NP_004975.2:p.Leu233=
XR_002957324.1:n.932G>A
NM_004984.4:c.699G>A MANE Select	NP_004975.2:p.Leu233=
NM_001354705.2:c.432G>A	NP_001341634.1:p.Leu144=