Canonical Allele Identifier: CA257367
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14784
dbSNP Id: rs121912437

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667298G>C , CM000683.2:g.31667298G>C GRCh38
NC_000021.8:g.33039611G>C , CM000683.1:g.33039611G>C GRCh37
NC_000021.7:g.31961482G>C NCBI36
NG_008689.1:g.12677G>C , LRG_652:g.12677G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.280G>C MANE Select ENSP00000270142.7:p.Gly94Arg
ENST00000270142.10:c.280G>C ENSP00000270142.6:p.Gly94Arg
ENST00000389995.4:c.223G>C ENSP00000374645.4:p.Gly75Arg
ENST00000470944.1:n.1208G>C
ENST00000476106.5:n.543G>C
NM_000454.4:c.280G>C , LRG_652t1:c.280G>C NP_000445.1:p.Gly94Arg
NM_000454.5:c.280G>C MANE Select NP_000445.1:p.Gly94Arg