Canonical Allele Identifier: CA2385880471
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667364C= , CM000683.2:g.31667364C= GRCh38
NC_000021.8:g.33039677C= , CM000683.1:g.33039677C= GRCh37
NC_000021.7:g.31961548C= NCBI36
NG_008689.1:g.12743C= , LRG_652:g.12743C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.346C= MANE Select ENSP00000270142.7:p.Arg116=
ENST00000270142.10:c.346C= ENSP00000270142.6:p.Arg116=
ENST00000389995.4:c.289C= ENSP00000374645.4:p.Arg97=
ENST00000470944.1:n.1274C=
NM_000454.4:c.346C= , LRG_652t1:c.346C= NP_000445.1:p.Arg116=
NM_000454.5:c.346C= MANE Select NP_000445.1:p.Arg116=