Canonical Allele Identifier: CA9998860
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 339668
ClinVar RCV Id: RCV000387182
dbSNP Id: rs756458346

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659835G>A , CM000683.2:g.31659835G>A GRCh38
NC_000021.8:g.33032148G>A , CM000683.1:g.33032148G>A GRCh37
NC_000021.7:g.31954019G>A NCBI36
NG_008689.1:g.5214G>A , LRG_652:g.5214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.66G>A MANE Select ENSP00000270142.7:p.Glu22=
ENST00000270142.10:c.66G>A ENSP00000270142.6:p.Glu22=
ENST00000389995.4:c.15+51G>A ENSP00000374645.4:n.15+51G>A
ENST00000470944.1:n.127G>A
ENST00000476106.5:n.143G>A
NM_000454.4:c.66G>A , LRG_652t1:c.66G>A NP_000445.1:p.Glu22=
NM_000454.5:c.66G>A MANE Select NP_000445.1:p.Glu22=