Canonical Allele Identifier: CA2038925797
Community Standard Title: NM_004984.4(KIF5A):c.847A= (p.Lys283=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569283A= , CM000674.2:g.57569283A= GRCh38
NC_000012.11:g.57963066A= , CM000674.1:g.57963066A= GRCh37
NC_000012.10:g.56249333A= NCBI36
NG_008155.1:g.24220A=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.847A= MANE Select NP_004975.2:p.Lys283=
ENST00000455537.7:c.847A= MANE Select ENSP00000408979.2:p.Lys283=
NM_001354705.1:c.580A= NP_001341634.1:p.Lys194=
NM_001354705.2:c.580A= NP_001341634.1:p.Lys194=
NM_004984.2:c.847A= NP_004975.2:p.Lys283=
NM_004984.3:c.847A= NP_004975.2:p.Lys283=
ENST00000286452.5:c.580A= ENSP00000286452.5:p.Lys194=
ENST00000455537.6:c.847A= ENSP00000408979.2:p.Lys283=
ENST00000674619.1:c.847A= ENSP00000502270.1:p.Lys283=
ENST00000676457.1:c.742A= ENSP00000501588.1:p.Lys248=
XR_002957324.1:n.1080A=