Canonical Allele Identifier: CA385499783
Gene: KIF5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57568964T>G , CM000674.2:g.57568964T>G GRCh38
NC_000012.11:g.57962747T>G , CM000674.1:g.57962747T>G GRCh37
NC_000012.10:g.56249014T>G NCBI36
NG_008155.1:g.23901T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.716T>G MANE Select ENSP00000408979.2:p.Val239Gly
ENST00000674619.1:c.716T>G ENSP00000502270.1:p.Val239Gly
ENST00000676457.1:c.611T>G ENSP00000501588.1:p.Val204Gly
ENST00000286452.5:c.449T>G ENSP00000286452.5:p.Val150Gly
ENST00000455537.6:c.716T>G ENSP00000408979.2:p.Val239Gly
NM_004984.2:c.716T>G NP_004975.2:p.Val239Gly
NM_001354705.1:c.449T>G NP_001341634.1:p.Val150Gly
NM_004984.3:c.716T>G NP_004975.2:p.Val239Gly
XR_002957324.1:n.949T>G
NM_004984.4:c.716T>G MANE Select NP_004975.2:p.Val239Gly
NM_001354705.2:c.449T>G NP_001341634.1:p.Val150Gly