Canonical Allele Identifier: CA1445033086
Gene: SOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800081T= , CM000666.2:g.24800081T= GRCh38
NC_000004.11:g.24801703T= , CM000666.1:g.24801703T= GRCh37
NC_000004.10:g.24410801T= NCBI36
NG_012213.1:g.9619T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.560T= MANE Select ENSP00000371554.3:p.Leu187=
ENST00000382120.3:c.560T= ENSP00000371554.3:p.Leu187=
NM_003102.2:c.560T= NP_003093.2:p.Leu187=
XR_427488.1:n.750T=
NM_003102.3:c.560T= NP_003093.2:p.Leu187=
NM_003102.4:c.560T= MANE Select NP_003093.2:p.Leu187=