Canonical Allele Identifier: CA118520
Gene: KIF5A HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'