Canonical Allele Identifier: CA356640169
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800102-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800102C>G , CM000666.2:g.24800102C>G GRCh38
NC_000004.11:g.24801724C>G , CM000666.1:g.24801724C>G GRCh37
NC_000004.10:g.24410822C>G NCBI36
NG_012213.1:g.9640C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.581C>G MANE Select ENSP00000371554.3:p.Ala194Gly
ENST00000382120.3:c.581C>G ENSP00000371554.3:p.Ala194Gly
NM_003102.2:c.581C>G NP_003093.2:p.Ala194Gly
XR_427488.1:n.771C>G
NM_003102.3:c.581C>G NP_003093.2:p.Ala194Gly
NM_003102.4:c.581C>G MANE Select NP_003093.2:p.Ala194Gly