Canonical Allele Identifier: CA480263846
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57961395T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567612T>C , CM000674.2:g.57567612T>C GRCh38
NC_000012.11:g.57961395T>C , CM000674.1:g.57961395T>C GRCh37
NC_000012.10:g.56247662T>C NCBI36
NG_008155.1:g.22549T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.708T>C MANE Select ENSP00000408979.2:p.Ser236=
ENST00000674619.1:c.708T>C ENSP00000502270.1:p.Ser236=
ENST00000676457.1:c.603T>C ENSP00000501588.1:p.Ser201=
ENST00000286452.5:c.441T>C ENSP00000286452.5:p.Ser147=
ENST00000455537.6:c.708T>C ENSP00000408979.2:p.Ser236=
NM_004984.2:c.708T>C NP_004975.2:p.Ser236=
NM_001354705.1:c.441T>C NP_001341634.1:p.Ser147=
NM_004984.3:c.708T>C NP_004975.2:p.Ser236=
XR_002957324.1:n.941T>C
NM_004984.4:c.708T>C MANE Select NP_004975.2:p.Ser236=
NM_001354705.2:c.441T>C NP_001341634.1:p.Ser147=