Canonical Allele Identifier: CA480264205
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57963140C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569357C>G , CM000674.2:g.57569357C>G GRCh38
NC_000012.11:g.57963140C>G , CM000674.1:g.57963140C>G GRCh37
NC_000012.10:g.56249407C>G NCBI36
NG_008155.1:g.24294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.921C>G MANE Select ENSP00000408979.2:p.Ser307=
ENST00000674619.1:c.921C>G ENSP00000502270.1:p.Ser307=
ENST00000676081.1:n.67C>G
ENST00000676457.1:c.816C>G ENSP00000501588.1:p.Ser272=
ENST00000286452.5:c.654C>G ENSP00000286452.5:p.Ser218=
ENST00000455537.6:c.921C>G ENSP00000408979.2:p.Ser307=
NM_004984.2:c.921C>G NP_004975.2:p.Ser307=
NM_001354705.1:c.654C>G NP_001341634.1:p.Ser218=
NM_004984.3:c.921C>G NP_004975.2:p.Ser307=
XR_002957324.1:n.1154C>G
NM_004984.4:c.921C>G MANE Select NP_004975.2:p.Ser307=
NM_001354705.2:c.654C>G NP_001341634.1:p.Ser218=