Canonical Allele Identifier: CA6652601

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57564956C>T , CM000674.2:g.57564956C>T	GRCh38
NC_000012.11:g.57958739C>T , CM000674.1:g.57958739C>T	GRCh37
NC_000012.10:g.56245006C>T	NCBI36
NG_008155.1:g.19893C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.484C>T MANE Select	NP_004975.2:p.Arg162Trp
ENST00000455537.7:c.484C>T MANE Select	ENSP00000408979.2:p.Arg162Trp
NM_001354705.1:c.217C>T	NP_001341634.1:p.Arg73Trp
NM_001354705.2:c.217C>T	NP_001341634.1:p.Arg73Trp
NM_004984.2:c.484C>T	NP_004975.2:p.Arg162Trp
NM_004984.3:c.484C>T	NP_004975.2:p.Arg162Trp
ENST00000286452.5:c.217C>T	ENSP00000286452.5:p.Arg73Trp
ENST00000455537.6:c.484C>T	ENSP00000408979.2:p.Arg162Trp
ENST00000674619.1:c.484C>T	ENSP00000502270.1:p.Arg162Trp
ENST00000676457.1:c.379C>T	ENSP00000501588.1:p.Arg127Trp
XR_002957324.1:n.717C>T