Canonical Allele Identifier: CA480266253
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57975707T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581924T>A , CM000674.2:g.57581924T>A GRCh38
NC_000012.11:g.57975707T>A , CM000674.1:g.57975707T>A GRCh37
NC_000012.10:g.56261974T>A NCBI36
NG_008155.1:g.36861T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2964T>A MANE Select ENSP00000408979.2:p.Ala988=
ENST00000674619.1:c.2985T>A ENSP00000502270.1:p.Ala995=
ENST00000675697.1:c.55T>A
ENST00000675737.1:n.368T>A
ENST00000675882.1:n.2487T>A
ENST00000675929.1:n.1522T>A
ENST00000676055.1:c.55T>A
ENST00000676457.1:c.2859T>A ENSP00000501588.1:p.Ala953=
ENST00000286452.5:c.2697T>A ENSP00000286452.5:p.Ala899=
ENST00000455537.6:c.2964T>A ENSP00000408979.2:p.Ala988=
ENST00000552227.1:n.247T>A
NM_004984.2:c.2964T>A NP_004975.2:p.Ala988=
NM_001354705.1:c.2697T>A NP_001341634.1:p.Ala899=
NM_004984.3:c.2964T>A NP_004975.2:p.Ala988=
XR_002957324.1:n.3197T>A
NM_004984.4:c.2964T>A MANE Select NP_004975.2:p.Ala988=
NM_001354705.2:c.2697T>A NP_001341634.1:p.Ala899=