Canonical Allele Identifier: CA2876290

Gene: SOD3

Linked Data

• ClinVar Variation Id: 2488651
• ClinVar RCV Id: RCV004279711
• dbSNP Id: rs751935756
• ExAC: 4:24801645 G / A
• gnomAD v2: 4-24801645-G-A
• gnomAD v3: 4-24800023-G-A
• gnomAD v4: 4-24800023-G-A
• MyVariant Identifiers: chr4:g.24801645G>A (hg19) ; chr4:g.24800023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800023G>A , CM000666.2:g.24800023G>A	GRCh38
NC_000004.11:g.24801645G>A , CM000666.1:g.24801645G>A	GRCh37
NC_000004.10:g.24410743G>A	NCBI36
NG_012213.1:g.9561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.502G>A MANE Select	ENSP00000371554.3:p.Ala168Thr
ENST00000382120.3:c.502G>A	ENSP00000371554.3:p.Ala168Thr
NM_003102.2:c.502G>A	NP_003093.2:p.Ala168Thr
XR_427488.1:n.692G>A
NM_003102.3:c.502G>A	NP_003093.2:p.Ala168Thr
NM_003102.4:c.502G>A MANE Select	NP_003093.2:p.Ala168Thr