Canonical Allele Identifier: CA385500725

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1718083
• ClinVar RCV Id: RCV002296542
• MyVariant Identifiers: chr12:g.57963111A>G (hg19) ; chr12:g.57569328A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569328A>G , CM000674.2:g.57569328A>G	GRCh38
NC_000012.11:g.57963111A>G , CM000674.1:g.57963111A>G	GRCh37
NC_000012.10:g.56249378A>G	NCBI36
NG_008155.1:g.24265A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.892A>G MANE Select	ENSP00000408979.2:p.Thr298Ala
ENST00000674619.1:c.892A>G	ENSP00000502270.1:p.Thr298Ala
ENST00000676081.1:n.38A>G
ENST00000676457.1:c.787A>G	ENSP00000501588.1:p.Thr263Ala
ENST00000286452.5:c.625A>G	ENSP00000286452.5:p.Thr209Ala
ENST00000455537.6:c.892A>G	ENSP00000408979.2:p.Thr298Ala
NM_004984.2:c.892A>G	NP_004975.2:p.Thr298Ala
NM_001354705.1:c.625A>G	NP_001341634.1:p.Thr209Ala
NM_004984.3:c.892A>G	NP_004975.2:p.Thr298Ala
XR_002957324.1:n.1125A>G
NM_004984.4:c.892A>G MANE Select	NP_004975.2:p.Thr298Ala
NM_001354705.2:c.625A>G	NP_001341634.1:p.Thr209Ala