Canonical Allele Identifier: CA6653063
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57576834G>A
GRCh37 chr12:g.57970617G>A
Revel Score:
ENST00000455537 (MANE Select) 0.316
ENST00000286452 0.316
gnomAD v2:
12:57970617 G / A
gnomAD v3:
12:57576834 G / A
gnomAD v4:
chr12-57576834-G-A
Joint Max Group AF 0.00176749 (NFE)
Genomes Max Group AF 0.00116935 (NFE)
Exomes Max Group AF 0.00179206 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57576834G>A , CM000674.2:g.57576834G>A GRCh38
NC_000012.11:g.57970617G>A , CM000674.1:g.57970617G>A GRCh37
NC_000012.10:g.56256884G>A NCBI36
NG_008155.1:g.31771G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2272G>A MANE Select ENSP00000408979.2:p.Glu758Lys
ENST00000674619.1:c.2272G>A ENSP00000502270.1:p.Glu758Lys
ENST00000675299.1:c.420G>A ENSP00000501888.1:n.420G>A
ENST00000675397.1:n.42G>A
ENST00000675882.1:n.1259G>A
ENST00000675929.1:n.830G>A
ENST00000675984.1:n.2342G>A
ENST00000676081.1:n.1917G>A
ENST00000676457.1:c.2167G>A ENSP00000501588.1:p.Glu723Lys
ENST00000286452.5:c.2005G>A ENSP00000286452.5:p.Glu669Lys
ENST00000455537.6:c.2272G>A ENSP00000408979.2:p.Glu758Lys
NM_004984.2:c.2272G>A NP_004975.2:p.Glu758Lys
NM_001354705.1:c.2005G>A NP_001341634.1:p.Glu669Lys
NM_004984.3:c.2272G>A NP_004975.2:p.Glu758Lys
XR_002957324.1:n.2505G>A
NM_004984.4:c.2272G>A MANE Select NP_004975.2:p.Glu758Lys
NM_001354705.2:c.2005G>A NP_001341634.1:p.Glu669Lys
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