Canonical Allele Identifier: CA130085
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57576825G>A
GRCh37 chr12:g.57970608G>A
Revel Score:
ENST00000455537 (MANE Select) 0.433
ENST00000286452 0.433
gnomAD v2:
12:57970608 G / A
gnomAD v3:
12:57576825 G / A
gnomAD v4:
chr12-57576825-G-A
Joint Max Group AF 0.00002549 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57576825G>A , CM000674.2:g.57576825G>A GRCh38
NC_000012.11:g.57970608G>A , CM000674.1:g.57970608G>A GRCh37
NC_000012.10:g.56256875G>A NCBI36
NG_008155.1:g.31762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2263G>A MANE Select ENSP00000408979.2:p.Glu755Lys
ENST00000674619.1:c.2263G>A ENSP00000502270.1:p.Glu755Lys
ENST00000675299.1:c.411G>A ENSP00000501888.1:n.411G>A
ENST00000675397.1:n.33G>A
ENST00000675882.1:n.1250G>A
ENST00000675929.1:n.821G>A
ENST00000675984.1:n.2333G>A
ENST00000676081.1:n.1908G>A
ENST00000676457.1:c.2158G>A ENSP00000501588.1:p.Glu720Lys
ENST00000286452.5:c.1996G>A ENSP00000286452.5:p.Glu666Lys
ENST00000455537.6:c.2263G>A ENSP00000408979.2:p.Glu755Lys
NM_004984.2:c.2263G>A NP_004975.2:p.Glu755Lys
NM_001354705.1:c.1996G>A NP_001341634.1:p.Glu666Lys
NM_004984.3:c.2263G>A NP_004975.2:p.Glu755Lys
XR_002957324.1:n.2496G>A
NM_004984.4:c.2263G>A MANE Select NP_004975.2:p.Glu755Lys
NM_001354705.2:c.1996G>A NP_001341634.1:p.Glu666Lys
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