Canonical Allele Identifier: CA16606674

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 391690
• ClinVar RCV Id: RCV000436918
• dbSNP Id: rs1057524193
• MyVariant Identifiers: chr12:g.57961291A>C (hg19) ; chr12:g.57567508A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567508A>C , CM000674.2:g.57567508A>C	GRCh38
NC_000012.11:g.57961291A>C , CM000674.1:g.57961291A>C	GRCh37
NC_000012.10:g.56247558A>C	NCBI36
NG_008155.1:g.22445A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.604A>C MANE Select	ENSP00000408979.2:p.Ser202Arg
ENST00000674619.1:c.604A>C	ENSP00000502270.1:p.Ser202Arg
ENST00000676457.1:c.499A>C	ENSP00000501588.1:p.Ser167Arg
ENST00000286452.5:c.337A>C	ENSP00000286452.5:p.Ser113Arg
ENST00000455537.6:c.604A>C	ENSP00000408979.2:p.Ser202Arg
NM_004984.2:c.604A>C	NP_004975.2:p.Ser202Arg
NM_001354705.1:c.337A>C	NP_001341634.1:p.Ser113Arg
NM_004984.3:c.604A>C	NP_004975.2:p.Ser202Arg
XR_002957324.1:n.837A>C
NM_004984.4:c.604A>C MANE Select	NP_004975.2:p.Ser202Arg
NM_001354705.2:c.337A>C	NP_001341634.1:p.Ser113Arg