Canonical Allele Identifier: CA385500031
Community Standard Title: NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569013C>G , CM000674.2:g.57569013C>G GRCh38
NC_000012.11:g.57962796C>G , CM000674.1:g.57962796C>G GRCh37
NC_000012.10:g.56249063C>G NCBI36
NG_008155.1:g.23950C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.765C>G MANE Select NP_004975.2:p.Ile255Met
ENST00000455537.7:c.765C>G MANE Select ENSP00000408979.2:p.Ile255Met
NM_001354705.1:c.498C>G NP_001341634.1:p.Ile166Met
NM_001354705.2:c.498C>G NP_001341634.1:p.Ile166Met
NM_004984.2:c.765C>G NP_004975.2:p.Ile255Met
NM_004984.3:c.765C>G NP_004975.2:p.Ile255Met
ENST00000286452.5:c.498C>G ENSP00000286452.5:p.Ile166Met
ENST00000455537.6:c.765C>G ENSP00000408979.2:p.Ile255Met
ENST00000674619.1:c.765C>G ENSP00000502270.1:p.Ile255Met
ENST00000676457.1:c.660C>G ENSP00000501588.1:p.Ile220Met
XR_002957324.1:n.998C>G