Canonical Allele Identifier: CA94297256
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs995300659
gnomAD v3: 4-24800197-T-C
gnomAD v4: 4-24800197-T-C
MyVariant Identifiers: chr4:g.24801819T>C (hg19) chr4:g.24800197T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800197T>C , CM000666.2:g.24800197T>C GRCh38
NC_000004.11:g.24801819T>C , CM000666.1:g.24801819T>C GRCh37
NC_000004.10:g.24410917T>C NCBI36
NG_012213.1:g.9735T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.676T>C MANE Select ENSP00000371554.3:p.Ser226Pro
ENST00000382120.3:c.676T>C ENSP00000371554.3:p.Ser226Pro
NM_003102.2:c.676T>C NP_003093.2:p.Ser226Pro
XR_427488.1:n.866T>C
NM_003102.3:c.676T>C NP_003093.2:p.Ser226Pro
NM_003102.4:c.676T>C MANE Select NP_003093.2:p.Ser226Pro
Search 100 bp 5'
Search 100 bp 3'