Canonical Allele Identifier: CA385499022

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 989067
• ClinVar RCV Id: RCV001391454
• dbSNP Id: rs1057524193
• MyVariant Identifiers: chr12:g.57961291A>G (hg19) ; chr12:g.57567508A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.604A>G MANE Select	ENSP00000408979.2:p.Ser202Gly
ENST00000674619.1:c.604A>G	ENSP00000502270.1:p.Ser202Gly
ENST00000676457.1:c.499A>G	ENSP00000501588.1:p.Ser167Gly
ENST00000286452.5:c.337A>G	ENSP00000286452.5:p.Ser113Gly
ENST00000455537.6:c.604A>G	ENSP00000408979.2:p.Ser202Gly
NM_004984.2:c.604A>G	NP_004975.2:p.Ser202Gly
NM_001354705.1:c.337A>G	NP_001341634.1:p.Ser113Gly
NM_004984.3:c.604A>G	NP_004975.2:p.Ser202Gly
XR_002957324.1:n.837A>G
NM_004984.4:c.604A>G MANE Select	NP_004975.2:p.Ser202Gly
NM_001354705.2:c.337A>G	NP_001341634.1:p.Ser113Gly