Canonical Allele Identifier: CA480263894
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57962754G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57568971G>A , CM000674.2:g.57568971G>A GRCh38
NC_000012.11:g.57962754G>A , CM000674.1:g.57962754G>A GRCh37
NC_000012.10:g.56249021G>A NCBI36
NG_008155.1:g.23908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.723G>A MANE Select ENSP00000408979.2:p.Lys241=
ENST00000674619.1:c.723G>A ENSP00000502270.1:p.Lys241=
ENST00000676457.1:c.618G>A ENSP00000501588.1:p.Lys206=
ENST00000286452.5:c.456G>A ENSP00000286452.5:p.Lys152=
ENST00000455537.6:c.723G>A ENSP00000408979.2:p.Lys241=
NM_004984.2:c.723G>A NP_004975.2:p.Lys241=
NM_001354705.1:c.456G>A NP_001341634.1:p.Lys152=
NM_004984.3:c.723G>A NP_004975.2:p.Lys241=
XR_002957324.1:n.956G>A
NM_004984.4:c.723G>A MANE Select NP_004975.2:p.Lys241=
NM_001354705.2:c.456G>A NP_001341634.1:p.Lys152=