Canonical Allele Identifier: CA356640577
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1329382617
gnomAD v2: 4-24801826-G-A
gnomAD v3: 4-24800204-G-A
gnomAD v4: 4-24800204-G-A
MyVariant Identifiers: chr4:g.24801826G>A (hg19) chr4:g.24800204G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800204G>A , CM000666.2:g.24800204G>A GRCh38
NC_000004.11:g.24801826G>A , CM000666.1:g.24801826G>A GRCh37
NC_000004.10:g.24410924G>A NCBI36
NG_012213.1:g.9742G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.683G>A MANE Select ENSP00000371554.3:p.Arg228His
ENST00000382120.3:c.683G>A ENSP00000371554.3:p.Arg228His
NM_003102.2:c.683G>A NP_003093.2:p.Arg228His
XR_427488.1:n.873G>A
NM_003102.3:c.683G>A NP_003093.2:p.Arg228His
NM_003102.4:c.683G>A MANE Select NP_003093.2:p.Arg228His
Search 100 bp 5'
Search 100 bp 3'