Canonical Allele Identifier: CA356639927

Gene: SOD3

Linked Data

• dbSNP Id: rs1157734081
• gnomAD v2: 4-24801664-T-A
• gnomAD v4: 4-24800042-T-A
• MyVariant Identifiers: chr4:g.24801664T>A (hg19) ; chr4:g.24800042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800042T>A , CM000666.2:g.24800042T>A	GRCh38
NC_000004.11:g.24801664T>A , CM000666.1:g.24801664T>A	GRCh37
NC_000004.10:g.24410762T>A	NCBI36
NG_012213.1:g.9580T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.521T>A MANE Select	ENSP00000371554.3:p.Val174Glu
ENST00000382120.3:c.521T>A	ENSP00000371554.3:p.Val174Glu
NM_003102.2:c.521T>A	NP_003093.2:p.Val174Glu
XR_427488.1:n.711T>A
NM_003102.3:c.521T>A	NP_003093.2:p.Val174Glu
NM_003102.4:c.521T>A MANE Select	NP_003093.2:p.Val174Glu