Canonical Allele Identifier: CA480264200
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57963137A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569354A>C , CM000674.2:g.57569354A>C GRCh38
NC_000012.11:g.57963137A>C , CM000674.1:g.57963137A>C GRCh37
NC_000012.10:g.56249404A>C NCBI36
NG_008155.1:g.24291A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.918A>C MANE Select ENSP00000408979.2:p.Pro306=
ENST00000674619.1:c.918A>C ENSP00000502270.1:p.Pro306=
ENST00000676081.1:n.64A>C
ENST00000676457.1:c.813A>C ENSP00000501588.1:p.Pro271=
ENST00000286452.5:c.651A>C ENSP00000286452.5:p.Pro217=
ENST00000455537.6:c.918A>C ENSP00000408979.2:p.Pro306=
NM_004984.2:c.918A>C NP_004975.2:p.Pro306=
NM_001354705.1:c.651A>C NP_001341634.1:p.Pro217=
NM_004984.3:c.918A>C NP_004975.2:p.Pro306=
XR_002957324.1:n.1151A>C
NM_004984.4:c.918A>C MANE Select NP_004975.2:p.Pro306=
NM_001354705.2:c.651A>C NP_001341634.1:p.Pro217=