Canonical Allele Identifier: CA94297223

Gene: SOD3

Linked Data

• dbSNP Id: rs908712505
• gnomAD v2: 4-24801357-G-C
• gnomAD v4: 4-24799735-G-C
• MyVariant Identifiers: chr4:g.24801357G>C (hg19) ; chr4:g.24799735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799735G>C , CM000666.2:g.24799735G>C	GRCh38
NC_000004.11:g.24801357G>C , CM000666.1:g.24801357G>C	GRCh37
NC_000004.10:g.24410455G>C	NCBI36
NG_012213.1:g.9273G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.214G>C MANE Select	ENSP00000371554.3:p.Asp72His
ENST00000382120.3:c.214G>C	ENSP00000371554.3:p.Asp72His
NM_003102.2:c.214G>C	NP_003093.2:p.Asp72His
XR_427488.1:n.404G>C
NM_003102.3:c.214G>C	NP_003093.2:p.Asp72His
NM_003102.4:c.214G>C MANE Select	NP_003093.2:p.Asp72His