Canonical Allele Identifier: CA2038925750
Community Standard Title: NM_004984.4(KIF5A):c.838C= (p.Arg280=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569274C= , CM000674.2:g.57569274C= GRCh38
NC_000012.11:g.57963057C= , CM000674.1:g.57963057C= GRCh37
NC_000012.10:g.56249324C= NCBI36
NG_008155.1:g.24211C=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.838C= MANE Select NP_004975.2:p.Arg280=
ENST00000455537.7:c.838C= MANE Select ENSP00000408979.2:p.Arg280=
NM_001354705.1:c.571C= NP_001341634.1:p.Arg191=
NM_001354705.2:c.571C= NP_001341634.1:p.Arg191=
NM_004984.2:c.838C= NP_004975.2:p.Arg280=
NM_004984.3:c.838C= NP_004975.2:p.Arg280=
ENST00000286452.5:c.571C= ENSP00000286452.5:p.Arg191=
ENST00000455537.6:c.838C= ENSP00000408979.2:p.Arg280=
ENST00000674619.1:c.838C= ENSP00000502270.1:p.Arg280=
ENST00000676457.1:c.733C= ENSP00000501588.1:p.Arg245=
XR_002957324.1:n.1071C=