Canonical Allele Identifier: CA118520

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 6806
• ClinVar RCV Id: RCV000007208
• dbSNP Id: rs121434441
• MyVariant Identifiers: chr12:g.57962798A>G (hg19) ; chr12:g.57569015A>G (hg38)
• PubMed: PMID:12355402 ; PMID:18203753

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569015A>G , CM000674.2:g.57569015A>G	GRCh38
NC_000012.11:g.57962798A>G , CM000674.1:g.57962798A>G	GRCh37
NC_000012.10:g.56249065A>G	NCBI36
NG_008155.1:g.23952A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.767A>G MANE Select	ENSP00000408979.2:p.Asn256Ser
ENST00000674619.1:c.767A>G	ENSP00000502270.1:p.Asn256Ser
ENST00000676457.1:c.662A>G	ENSP00000501588.1:p.Asn221Ser
ENST00000286452.5:c.500A>G	ENSP00000286452.5:p.Asn167Ser
ENST00000455537.6:c.767A>G	ENSP00000408979.2:p.Asn256Ser
NM_004984.2:c.767A>G	NP_004975.2:p.Asn256Ser
NM_001354705.1:c.500A>G	NP_001341634.1:p.Asn167Ser
NM_004984.3:c.767A>G	NP_004975.2:p.Asn256Ser
XR_002957324.1:n.1000A>G
NM_004984.4:c.767A>G MANE Select	NP_004975.2:p.Asn256Ser
NM_001354705.2:c.500A>G	NP_001341634.1:p.Asn167Ser