Canonical Allele Identifier: CA480264177
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57963095C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569312C>G , CM000674.2:g.57569312C>G GRCh38
NC_000012.11:g.57963095C>G , CM000674.1:g.57963095C>G GRCh37
NC_000012.10:g.56249362C>G NCBI36
NG_008155.1:g.24249C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.876C>G MANE Select ENSP00000408979.2:p.Leu292=
ENST00000674619.1:c.876C>G ENSP00000502270.1:p.Leu292=
ENST00000676081.1:n.22C>G
ENST00000676457.1:c.771C>G ENSP00000501588.1:p.Leu257=
ENST00000286452.5:c.609C>G ENSP00000286452.5:p.Leu203=
ENST00000455537.6:c.876C>G ENSP00000408979.2:p.Leu292=
NM_004984.2:c.876C>G NP_004975.2:p.Leu292=
NM_001354705.1:c.609C>G NP_001341634.1:p.Leu203=
NM_004984.3:c.876C>G NP_004975.2:p.Leu292=
XR_002957324.1:n.1109C>G
NM_004984.4:c.876C>G MANE Select NP_004975.2:p.Leu292=
NM_001354705.2:c.609C>G NP_001341634.1:p.Leu203=