Canonical Allele Identifier: CA2038921765
Community Standard Title: NM_004984.4(KIF5A):c.694G= (p.Asp232=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567598G= , CM000674.2:g.57567598G= GRCh38
NC_000012.11:g.57961381G= , CM000674.1:g.57961381G= GRCh37
NC_000012.10:g.56247648G= NCBI36
NG_008155.1:g.22535G=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.694G= MANE Select NP_004975.2:p.Asp232=
ENST00000455537.7:c.694G= MANE Select ENSP00000408979.2:p.Asp232=
NM_001354705.1:c.427G= NP_001341634.1:p.Asp143=
NM_001354705.2:c.427G= NP_001341634.1:p.Asp143=
NM_004984.2:c.694G= NP_004975.2:p.Asp232=
NM_004984.3:c.694G= NP_004975.2:p.Asp232=
ENST00000286452.5:c.427G= ENSP00000286452.5:p.Asp143=
ENST00000455537.6:c.694G= ENSP00000408979.2:p.Asp232=
ENST00000674619.1:c.694G= ENSP00000502270.1:p.Asp232=
ENST00000676457.1:c.589G= ENSP00000501588.1:p.Asp197=
XR_002957324.1:n.927G=