Canonical Allele Identifier: CA2876226

Gene: SOD3

Linked Data

• ClinVar Variation Id: 2248377
• ClinVar RCV Id: RCV004109040
• dbSNP Id: rs372589226
• ExAC: 4:24801309 G / A
• gnomAD v2: 4-24801309-G-A
• gnomAD v3: 4-24799687-G-A
• gnomAD v4: 4-24799687-G-A
• MyVariant Identifiers: chr4:g.24801309G>A (hg19) ; chr4:g.24799687G>A (hg38)

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