Canonical Allele Identifier: CA385500267

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 430828
• ClinVar RCV Id: RCV000495879
• dbSNP Id: rs1131692233
• MyVariant Identifiers: chr12:g.57962830T>C (hg19) ; chr12:g.57569047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569047T>C , CM000674.2:g.57569047T>C	GRCh38
NC_000012.11:g.57962830T>C , CM000674.1:g.57962830T>C	GRCh37
NC_000012.10:g.56249097T>C	NCBI36
NG_008155.1:g.23984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.799T>C MANE Select	ENSP00000408979.2:p.Ser267Pro
ENST00000674619.1:c.799T>C	ENSP00000502270.1:p.Ser267Pro
ENST00000676457.1:c.694T>C	ENSP00000501588.1:p.Ser232Pro
ENST00000286452.5:c.532T>C	ENSP00000286452.5:p.Ser178Pro
ENST00000455537.6:c.799T>C	ENSP00000408979.2:p.Ser267Pro
NM_004984.2:c.799T>C	NP_004975.2:p.Ser267Pro
NM_001354705.1:c.532T>C	NP_001341634.1:p.Ser178Pro
NM_004984.3:c.799T>C	NP_004975.2:p.Ser267Pro
XR_002957324.1:n.1032T>C
NM_004984.4:c.799T>C MANE Select	NP_004975.2:p.Ser267Pro
NM_001354705.2:c.532T>C	NP_001341634.1:p.Ser178Pro