Canonical Allele Identifier: CA356640711
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800236-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800236G>A , CM000666.2:g.24800236G>A GRCh38
NC_000004.11:g.24801858G>A , CM000666.1:g.24801858G>A GRCh37
NC_000004.10:g.24410956G>A NCBI36
NG_012213.1:g.9774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.715G>A MANE Select ENSP00000371554.3:p.Ala239Thr
ENST00000382120.3:c.715G>A ENSP00000371554.3:p.Ala239Thr
NM_003102.2:c.715G>A NP_003093.2:p.Ala239Thr
XR_427488.1:n.905G>A
NM_003102.3:c.715G>A NP_003093.2:p.Ala239Thr
NM_003102.4:c.715G>A MANE Select NP_003093.2:p.Ala239Thr