Canonical Allele Identifier: CA2876226
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2248377
ClinVar RCV Id: RCV004109040
dbSNP Id: rs372589226
gnomAD v2: 4-24801309-G-A
gnomAD v3: 4-24799687-G-A
gnomAD v4: 4-24799687-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799687G>A , CM000666.2:g.24799687G>A GRCh38
NC_000004.11:g.24801309G>A , CM000666.1:g.24801309G>A GRCh37
NC_000004.10:g.24410407G>A NCBI36
NG_012213.1:g.9225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.166G>A MANE Select ENSP00000371554.3:p.Asp56Asn
ENST00000382120.3:c.166G>A ENSP00000371554.3:p.Asp56Asn
NM_003102.2:c.166G>A NP_003093.2:p.Asp56Asn
XR_427488.1:n.356G>A
NM_003102.3:c.166G>A NP_003093.2:p.Asp56Asn
NM_003102.4:c.166G>A MANE Select NP_003093.2:p.Asp56Asn