Canonical Allele Identifier: CA356639305
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799871A>G , CM000666.2:g.24799871A>G GRCh38
NC_000004.11:g.24801493A>G , CM000666.1:g.24801493A>G GRCh37
NC_000004.10:g.24410591A>G NCBI36
NG_012213.1:g.9409A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.350A>G MANE Select ENSP00000371554.3:p.Gln117Arg
ENST00000382120.3:c.350A>G ENSP00000371554.3:p.Gln117Arg
NM_003102.2:c.350A>G NP_003093.2:p.Gln117Arg
XR_427488.1:n.540A>G
NM_003102.3:c.350A>G NP_003093.2:p.Gln117Arg
NM_003102.4:c.350A>G MANE Select NP_003093.2:p.Gln117Arg