Canonical Allele Identifier: CA480266244
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57975695C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581912C>G , CM000674.2:g.57581912C>G GRCh38
NC_000012.11:g.57975695C>G , CM000674.1:g.57975695C>G GRCh37
NC_000012.10:g.56261962C>G NCBI36
NG_008155.1:g.36849C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2952C>G MANE Select ENSP00000408979.2:p.Gly984=
ENST00000674619.1:c.2973C>G ENSP00000502270.1:p.Gly991=
ENST00000675697.1:c.43C>G
ENST00000675737.1:n.356C>G
ENST00000675882.1:n.2475C>G
ENST00000675929.1:n.1510C>G
ENST00000676055.1:c.43C>G
ENST00000676457.1:c.2847C>G ENSP00000501588.1:p.Gly949=
ENST00000286452.5:c.2685C>G ENSP00000286452.5:p.Gly895=
ENST00000455537.6:c.2952C>G ENSP00000408979.2:p.Gly984=
ENST00000552227.1:n.235C>G
NM_004984.2:c.2952C>G NP_004975.2:p.Gly984=
NM_001354705.1:c.2685C>G NP_001341634.1:p.Gly895=
NM_004984.3:c.2952C>G NP_004975.2:p.Gly984=
XR_002957324.1:n.3185C>G
NM_004984.4:c.2952C>G MANE Select NP_004975.2:p.Gly984=
NM_001354705.2:c.2685C>G NP_001341634.1:p.Gly895=