Canonical Allele Identifier: CA2385880473
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667366C= , CM000683.2:g.31667366C= GRCh38
NC_000021.8:g.33039679C= , CM000683.1:g.33039679C= GRCh37
NC_000021.7:g.31961550C= NCBI36
NG_008689.1:g.12745C= , LRG_652:g.12745C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.348C= MANE Select ENSP00000270142.7:p.Arg116=
ENST00000270142.10:c.348C= ENSP00000270142.6:p.Arg116=
ENST00000389995.4:c.291C= ENSP00000374645.4:p.Arg97=
ENST00000470944.1:n.1276C=
NM_000454.4:c.348C= , LRG_652t1:c.348C= NP_000445.1:p.Arg116=
NM_000454.5:c.348C= MANE Select NP_000445.1:p.Arg116=