Canonical Allele Identifier: CA10642093

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57584498C>T , CM000674.2:g.57584498C>T	GRCh38
NC_000012.11:g.57978281C>T , CM000674.1:g.57978281C>T	GRCh37
NC_000012.10:g.56264548C>T	NCBI36
NG_008155.1:g.39435C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.*317C>T MANE Select	NP_004975.2:n.*317C>T
ENST00000455537.7:c.*317C>T MANE Select	ENSP00000408979.2:n.*317C>T
NM_001354705.1:c.*317C>T	NP_001341634.1:n.*317C>T
NM_001354705.2:c.*317C>T	NP_001341634.1:n.*317C>T
NM_004984.2:c.*317C>T	NP_004975.2:n.*317C>T
NM_004984.3:c.*317C>T	NP_004975.2:n.*317C>T
ENST00000286452.5:c.*317C>T	ENSP00000286452.5:n.*317C>T
ENST00000455537.6:c.*317C>T	ENSP00000408979.2:n.*317C>T
ENST00000674619.1:c.*317C>T	ENSP00000502270.1:n.*317C>T
ENST00000674980.1:c.116-632C>T
ENST00000675433.1:c.116-1108C>T
ENST00000675697.1:c.479C>T
ENST00000675737.1:n.1940C>T
ENST00000675866.1:c.309C>T
ENST00000675882.1:n.3410C>T
ENST00000675929.1:n.2445C>T
ENST00000676437.1:c.1914C>T
ENST00000676457.1:c.*317C>T	ENSP00000501588.1:n.*317C>T
XR_002957324.1:n.4120C>T