Canonical Allele Identifier: CA480266232
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57975683C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581900C>G , CM000674.2:g.57581900C>G GRCh38
NC_000012.11:g.57975683C>G , CM000674.1:g.57975683C>G GRCh37
NC_000012.10:g.56261950C>G NCBI36
NG_008155.1:g.36837C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2940C>G MANE Select ENSP00000408979.2:p.Ala980=
ENST00000674619.1:c.2961C>G ENSP00000502270.1:p.Ala987=
ENST00000675697.1:c.31C>G
ENST00000675737.1:n.344C>G
ENST00000675882.1:n.2463C>G
ENST00000675929.1:n.1498C>G
ENST00000676055.1:c.31C>G
ENST00000676457.1:c.2835C>G ENSP00000501588.1:p.Ala945=
ENST00000286452.5:c.2673C>G ENSP00000286452.5:p.Ala891=
ENST00000455537.6:c.2940C>G ENSP00000408979.2:p.Ala980=
ENST00000552227.1:n.223C>G
NM_004984.2:c.2940C>G NP_004975.2:p.Ala980=
NM_001354705.1:c.2673C>G NP_001341634.1:p.Ala891=
NM_004984.3:c.2940C>G NP_004975.2:p.Ala980=
XR_002957324.1:n.3173C>G
NM_004984.4:c.2940C>G MANE Select NP_004975.2:p.Ala980=
NM_001354705.2:c.2673C>G NP_001341634.1:p.Ala891=