Canonical Allele Identifier: CA356639417
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799921C>G , CM000666.2:g.24799921C>G GRCh38
NC_000004.11:g.24801543C>G , CM000666.1:g.24801543C>G GRCh37
NC_000004.10:g.24410641C>G NCBI36
NG_012213.1:g.9459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.400C>G MANE Select ENSP00000371554.3:p.Pro134Ala
ENST00000382120.3:c.400C>G ENSP00000371554.3:p.Pro134Ala
NM_003102.2:c.400C>G NP_003093.2:p.Pro134Ala
XR_427488.1:n.590C>G
NM_003102.3:c.400C>G NP_003093.2:p.Pro134Ala
NM_003102.4:c.400C>G MANE Select NP_003093.2:p.Pro134Ala