Canonical Allele Identifier: CA480266258
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57975710C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581927C>A , CM000674.2:g.57581927C>A GRCh38
NC_000012.11:g.57975710C>A , CM000674.1:g.57975710C>A GRCh37
NC_000012.10:g.56261977C>A NCBI36
NG_008155.1:g.36864C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2967C>A MANE Select ENSP00000408979.2:p.Ser989=
ENST00000674619.1:c.2988C>A ENSP00000502270.1:p.Ser996=
ENST00000675697.1:c.58C>A
ENST00000675737.1:n.371C>A
ENST00000675882.1:n.2490C>A
ENST00000675929.1:n.1525C>A
ENST00000676055.1:c.58C>A
ENST00000676457.1:c.2862C>A ENSP00000501588.1:p.Ser954=
ENST00000286452.5:c.2700C>A ENSP00000286452.5:p.Ser900=
ENST00000455537.6:c.2967C>A ENSP00000408979.2:p.Ser989=
ENST00000552227.1:n.250C>A
NM_004984.2:c.2967C>A NP_004975.2:p.Ser989=
NM_001354705.1:c.2700C>A NP_001341634.1:p.Ser900=
NM_004984.3:c.2967C>A NP_004975.2:p.Ser989=
XR_002957324.1:n.3200C>A
NM_004984.4:c.2967C>A MANE Select NP_004975.2:p.Ser989=
NM_001354705.2:c.2700C>A NP_001341634.1:p.Ser900=