Canonical Allele Identifier: CA480263891
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57962748C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57568965C>G , CM000674.2:g.57568965C>G GRCh38
NC_000012.11:g.57962748C>G , CM000674.1:g.57962748C>G GRCh37
NC_000012.10:g.56249015C>G NCBI36
NG_008155.1:g.23902C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.717C>G MANE Select ENSP00000408979.2:p.Val239=
ENST00000674619.1:c.717C>G ENSP00000502270.1:p.Val239=
ENST00000676457.1:c.612C>G ENSP00000501588.1:p.Val204=
ENST00000286452.5:c.450C>G ENSP00000286452.5:p.Val150=
ENST00000455537.6:c.717C>G ENSP00000408979.2:p.Val239=
NM_004984.2:c.717C>G NP_004975.2:p.Val239=
NM_001354705.1:c.450C>G NP_001341634.1:p.Val150=
NM_004984.3:c.717C>G NP_004975.2:p.Val239=
XR_002957324.1:n.950C>G
NM_004984.4:c.717C>G MANE Select NP_004975.2:p.Val239=
NM_001354705.2:c.450C>G NP_001341634.1:p.Val150=