Canonical Allele Identifier: CA6653171
Community Standard Title: NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581089G>A , CM000674.2:g.57581089G>A GRCh38
NC_000012.11:g.57974872G>A , CM000674.1:g.57974872G>A GRCh37
NC_000012.10:g.56261139G>A NCBI36
NG_008155.1:g.36026G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.2672G>A MANE Select NP_004975.2:p.Arg891His
ENST00000455537.7:c.2672G>A MANE Select ENSP00000408979.2:p.Arg891His
NM_001354705.1:c.2405G>A NP_001341634.1:p.Arg802His
NM_001354705.2:c.2405G>A NP_001341634.1:p.Arg802His
NM_004984.2:c.2672G>A NP_004975.2:p.Arg891His
NM_004984.3:c.2672G>A NP_004975.2:p.Arg891His
ENST00000286452.5:c.2405G>A ENSP00000286452.5:p.Arg802His
ENST00000455537.6:c.2672G>A ENSP00000408979.2:p.Arg891His
ENST00000674619.1:c.2693G>A ENSP00000502270.1:p.Arg898His
ENST00000674776.1:c.180G>A ENSP00000502434.1:n.180G>A
ENST00000675634.1:c.134G>A ENSP00000502231.1:p.Arg45His
ENST00000675737.1:n.76G>A
ENST00000675882.1:n.1894G>A
ENST00000675907.1:c.227G>A ENSP00000502360.1:p.Arg76His
ENST00000675929.1:n.1230G>A
ENST00000676457.1:c.2567G>A ENSP00000501588.1:p.Arg856His
XR_002957324.1:n.2905G>A