Canonical Allele Identifier: CA6652781
Community Standard Title: NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57570042C>T , CM000674.2:g.57570042C>T GRCh38
NC_000012.11:g.57963825C>T , CM000674.1:g.57963825C>T GRCh37
NC_000012.10:g.56250092C>T NCBI36
NG_008155.1:g.24979C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.1173C>T MANE Select NP_004975.2:p.Ala391=
ENST00000455537.7:c.1173C>T MANE Select ENSP00000408979.2:p.Ala391=
NM_001354705.1:c.906C>T NP_001341634.1:p.Ala302=
NM_001354705.2:c.906C>T NP_001341634.1:p.Ala302=
NM_004984.2:c.1173C>T NP_004975.2:p.Ala391=
NM_004984.3:c.1173C>T NP_004975.2:p.Ala391=
ENST00000286452.5:c.906C>T ENSP00000286452.5:p.Ala302=
ENST00000455537.6:c.1173C>T ENSP00000408979.2:p.Ala391=
ENST00000674619.1:c.1173C>T ENSP00000502270.1:p.Ala391=
ENST00000675882.1:n.160C>T
ENST00000676081.1:n.319C>T
ENST00000676457.1:c.1068C>T ENSP00000501588.1:p.Ala356=
XR_002957324.1:n.1406C>T