Canonical Allele Identifier: CA385515078

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581007C>T , CM000674.2:g.57581007C>T	GRCh38
NC_000012.11:g.57974790C>T , CM000674.1:g.57974790C>T	GRCh37
NC_000012.10:g.56261057C>T	NCBI36
NG_008155.1:g.35944C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.2590C>T MANE Select	NP_004975.2:p.Arg864Ter
ENST00000455537.7:c.2590C>T MANE Select	ENSP00000408979.2:p.Arg864Ter
NM_001354705.1:c.2323C>T	NP_001341634.1:p.Arg775Ter
NM_001354705.2:c.2323C>T	NP_001341634.1:p.Arg775Ter
NM_004984.2:c.2590C>T	NP_004975.2:p.Arg864Ter
NM_004984.3:c.2590C>T	NP_004975.2:p.Arg864Ter
ENST00000286452.5:c.2323C>T	ENSP00000286452.5:p.Arg775Ter
ENST00000455537.6:c.2590C>T	ENSP00000408979.2:p.Arg864Ter
ENST00000674619.1:c.2611C>T	ENSP00000502270.1:p.Arg871Ter
ENST00000674776.1:c.106-8C>T	ENSP00000502434.1:n.106-8C>T
ENST00000675634.1:c.52C>T	ENSP00000502231.1:p.Arg18Ter
ENST00000675882.1:n.1812C>T
ENST00000675907.1:c.145C>T	ENSP00000502360.1:p.Arg49Ter
ENST00000675929.1:n.1148C>T
ENST00000676457.1:c.2485C>T	ENSP00000501588.1:p.Arg829Ter
XR_002957324.1:n.2823C>T