Canonical Allele Identifier: CA385499027
Community Standard Title: NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567509G>A , CM000674.2:g.57567509G>A GRCh38
NC_000012.11:g.57961292G>A , CM000674.1:g.57961292G>A GRCh37
NC_000012.10:g.56247559G>A NCBI36
NG_008155.1:g.22446G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.605G>A MANE Select NP_004975.2:p.Ser202Asn
ENST00000455537.7:c.605G>A MANE Select ENSP00000408979.2:p.Ser202Asn
NM_001354705.1:c.338G>A NP_001341634.1:p.Ser113Asn
NM_001354705.2:c.338G>A NP_001341634.1:p.Ser113Asn
NM_004984.2:c.605G>A NP_004975.2:p.Ser202Asn
NM_004984.3:c.605G>A NP_004975.2:p.Ser202Asn
ENST00000286452.5:c.338G>A ENSP00000286452.5:p.Ser113Asn
ENST00000455537.6:c.605G>A ENSP00000408979.2:p.Ser202Asn
ENST00000674619.1:c.605G>A ENSP00000502270.1:p.Ser202Asn
ENST00000676457.1:c.500G>A ENSP00000501588.1:p.Ser167Asn
XR_002957324.1:n.838G>A