Canonical Allele Identifier: CA1445032985
Gene: SOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800022C= , CM000666.2:g.24800022C= GRCh38
NC_000004.11:g.24801644C= , CM000666.1:g.24801644C= GRCh37
NC_000004.10:g.24410742C= NCBI36
NG_012213.1:g.9560C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.501C= MANE Select ENSP00000371554.3:p.Leu167=
ENST00000382120.3:c.501C= ENSP00000371554.3:p.Leu167=
NM_003102.2:c.501C= NP_003093.2:p.Leu167=
XR_427488.1:n.691C=
NM_003102.3:c.501C= NP_003093.2:p.Leu167=
NM_003102.4:c.501C= MANE Select NP_003093.2:p.Leu167=