Canonical Allele Identifier: CA480266249
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57975701C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581918C>G , CM000674.2:g.57581918C>G GRCh38
NC_000012.11:g.57975701C>G , CM000674.1:g.57975701C>G GRCh37
NC_000012.10:g.56261968C>G NCBI36
NG_008155.1:g.36855C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2958C>G MANE Select ENSP00000408979.2:p.Pro986=
ENST00000674619.1:c.2979C>G ENSP00000502270.1:p.Pro993=
ENST00000675697.1:c.49C>G
ENST00000675737.1:n.362C>G
ENST00000675882.1:n.2481C>G
ENST00000675929.1:n.1516C>G
ENST00000676055.1:c.49C>G
ENST00000676457.1:c.2853C>G ENSP00000501588.1:p.Pro951=
ENST00000286452.5:c.2691C>G ENSP00000286452.5:p.Pro897=
ENST00000455537.6:c.2958C>G ENSP00000408979.2:p.Pro986=
ENST00000552227.1:n.241C>G
NM_004984.2:c.2958C>G NP_004975.2:p.Pro986=
NM_001354705.1:c.2691C>G NP_001341634.1:p.Pro897=
NM_004984.3:c.2958C>G NP_004975.2:p.Pro986=
XR_002957324.1:n.3191C>G
NM_004984.4:c.2958C>G MANE Select NP_004975.2:p.Pro986=
NM_001354705.2:c.2691C>G NP_001341634.1:p.Pro897=