Canonical Allele Identifier: CA385500310

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2698412
• ClinVar RCV Id: RCV003589609
• MyVariant Identifiers: chr12:g.57962840C>G (hg19) ; chr12:g.57569057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569057C>G , CM000674.2:g.57569057C>G	GRCh38
NC_000012.11:g.57962840C>G , CM000674.1:g.57962840C>G	GRCh37
NC_000012.10:g.56249107C>G	NCBI36
NG_008155.1:g.23994C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.809C>G MANE Select	ENSP00000408979.2:p.Ala270Gly
ENST00000674619.1:c.809C>G	ENSP00000502270.1:p.Ala270Gly
ENST00000676457.1:c.704C>G	ENSP00000501588.1:p.Ala235Gly
ENST00000286452.5:c.542C>G	ENSP00000286452.5:p.Ala181Gly
ENST00000455537.6:c.809C>G	ENSP00000408979.2:p.Ala270Gly
NM_004984.2:c.809C>G	NP_004975.2:p.Ala270Gly
NM_001354705.1:c.542C>G	NP_001341634.1:p.Ala181Gly
NM_004984.3:c.809C>G	NP_004975.2:p.Ala270Gly
XR_002957324.1:n.1042C>G
NM_004984.4:c.809C>G MANE Select	NP_004975.2:p.Ala270Gly
NM_001354705.2:c.542C>G	NP_001341634.1:p.Ala181Gly