Canonical Allele Identifier: CA16606592
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 390371
ClinVar RCV Id: RCV000422449
dbSNP Id: rs1057523746
MyVariant Identifiers: chr12:g.57963066A>G (hg19) chr12:g.57569283A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569283A>G , CM000674.2:g.57569283A>G GRCh38
NC_000012.11:g.57963066A>G , CM000674.1:g.57963066A>G GRCh37
NC_000012.10:g.56249333A>G NCBI36
NG_008155.1:g.24220A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000455537.7:c.847A>G MANE Select ENSP00000408979.2:p.Lys283Glu
ENST00000674619.1:c.847A>G ENSP00000502270.1:p.Lys283Glu
ENST00000676457.1:c.742A>G ENSP00000501588.1:p.Lys248Glu
ENST00000286452.5:c.580A>G ENSP00000286452.5:p.Lys194Glu
ENST00000455537.6:c.847A>G ENSP00000408979.2:p.Lys283Glu
NM_004984.2:c.847A>G NP_004975.2:p.Lys283Glu
NM_001354705.1:c.580A>G NP_001341634.1:p.Lys194Glu
NM_004984.3:c.847A>G NP_004975.2:p.Lys283Glu
XR_002957324.1:n.1080A>G
NM_004984.4:c.847A>G MANE Select NP_004975.2:p.Lys283Glu
NM_001354705.2:c.580A>G NP_001341634.1:p.Lys194Glu
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