Canonical Allele Identifier: CA94297259
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1033727089

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800209A>C , CM000666.2:g.24800209A>C GRCh38
NC_000004.11:g.24801831A>C , CM000666.1:g.24801831A>C GRCh37
NC_000004.10:g.24410929A>C NCBI36
NG_012213.1:g.9747A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.688A>C MANE Select ENSP00000371554.3:p.Lys230Gln
ENST00000382120.3:c.688A>C ENSP00000371554.3:p.Lys230Gln
NM_003102.2:c.688A>C NP_003093.2:p.Lys230Gln
XR_427488.1:n.878A>C
NM_003102.3:c.688A>C NP_003093.2:p.Lys230Gln
NM_003102.4:c.688A>C MANE Select NP_003093.2:p.Lys230Gln