Canonical Allele Identifier: CA6652775
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57570019G>C
GRCh37 chr12:g.57963802G>C
Revel Score:
ENST00000455537 (MANE Select) 0.202
ENST00000286452 0.202
gnomAD v2:
12:57963802 G / C
gnomAD v3:
12:57570019 G / C
gnomAD v4:
chr12-57570019-G-C
Joint Max Group AF 0.00108161 (AMR)
Genomes Max Group AF 0.00260277 (AMR)
Exomes Max Group AF 0.00076356 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57570019G>C , CM000674.2:g.57570019G>C GRCh38
NC_000012.11:g.57963802G>C , CM000674.1:g.57963802G>C GRCh37
NC_000012.10:g.56250069G>C NCBI36
NG_008155.1:g.24956G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.1150G>C MANE Select ENSP00000408979.2:p.Gly384Arg
ENST00000674619.1:c.1150G>C ENSP00000502270.1:p.Gly384Arg
ENST00000675882.1:n.137G>C
ENST00000676081.1:n.296G>C
ENST00000676457.1:c.1045G>C ENSP00000501588.1:p.Gly349Arg
ENST00000286452.5:c.883G>C ENSP00000286452.5:p.Gly295Arg
ENST00000455537.6:c.1150G>C ENSP00000408979.2:p.Gly384Arg
NM_004984.2:c.1150G>C NP_004975.2:p.Gly384Arg
NM_001354705.1:c.883G>C NP_001341634.1:p.Gly295Arg
NM_004984.3:c.1150G>C NP_004975.2:p.Gly384Arg
XR_002957324.1:n.1383G>C
NM_004984.4:c.1150G>C MANE Select NP_004975.2:p.Gly384Arg
NM_001354705.2:c.883G>C NP_001341634.1:p.Gly295Arg
Search 100 bp 5'
Search 100 bp 3'