Canonical Allele Identifier: CA6653264
Community Standard Title: NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581950A>T , CM000674.2:g.57581950A>T GRCh38
NC_000012.11:g.57975733A>T , CM000674.1:g.57975733A>T GRCh37
NC_000012.10:g.56262000A>T NCBI36
NG_008155.1:g.36887A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.2990A>T MANE Select NP_004975.2:p.Asn997Ile
ENST00000455537.7:c.2990A>T MANE Select ENSP00000408979.2:p.Asn997Ile
NM_001354705.1:c.2723A>T NP_001341634.1:p.Asn908Ile
NM_001354705.2:c.2723A>T NP_001341634.1:p.Asn908Ile
NM_004984.2:c.2990A>T NP_004975.2:p.Asn997Ile
NM_004984.3:c.2990A>T NP_004975.2:p.Asn997Ile
ENST00000286452.5:c.2723A>T ENSP00000286452.5:p.Asn908Ile
ENST00000455537.6:c.2990A>T ENSP00000408979.2:p.Asn997Ile
ENST00000552227.1:n.273A>T
ENST00000674619.1:c.3011A>T ENSP00000502270.1:p.Asn1004Ile
ENST00000675697.1:c.81A>T
ENST00000675737.1:n.394A>T
ENST00000675882.1:n.2513A>T
ENST00000675929.1:n.1548A>T
ENST00000676055.1:c.81A>T
ENST00000676437.1:c.15A>T
ENST00000676457.1:c.2885A>T ENSP00000501588.1:p.Asn962Ile
XR_002957324.1:n.3223A>T