Canonical Allele Identifier: CA385499948
Gene: KIF5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57568996G>T , CM000674.2:g.57568996G>T GRCh38
NC_000012.11:g.57962779G>T , CM000674.1:g.57962779G>T GRCh37
NC_000012.10:g.56249046G>T NCBI36
NG_008155.1:g.23933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.748G>T MANE Select ENSP00000408979.2:p.Asp250Tyr
ENST00000674619.1:c.748G>T ENSP00000502270.1:p.Asp250Tyr
ENST00000676457.1:c.643G>T ENSP00000501588.1:p.Asp215Tyr
ENST00000286452.5:c.481G>T ENSP00000286452.5:p.Asp161Tyr
ENST00000455537.6:c.748G>T ENSP00000408979.2:p.Asp250Tyr
NM_004984.2:c.748G>T NP_004975.2:p.Asp250Tyr
NM_001354705.1:c.481G>T NP_001341634.1:p.Asp161Tyr
NM_004984.3:c.748G>T NP_004975.2:p.Asp250Tyr
XR_002957324.1:n.981G>T
NM_004984.4:c.748G>T MANE Select NP_004975.2:p.Asp250Tyr
NM_001354705.2:c.481G>T NP_001341634.1:p.Asp161Tyr