Canonical Allele Identifier: CA2876245

Gene: SOD3

Linked Data

• dbSNP Id: rs200125712
• ExAC: 4:24801407 G / A
• gnomAD v2: 4-24801407-G-A
• gnomAD v3: 4-24799785-G-A
• gnomAD v4: 4-24799785-G-A
• MyVariant Identifiers: chr4:g.24801407G>A (hg19) ; chr4:g.24799785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799785G>A , CM000666.2:g.24799785G>A	GRCh38
NC_000004.11:g.24801407G>A , CM000666.1:g.24801407G>A	GRCh37
NC_000004.10:g.24410505G>A	NCBI36
NG_012213.1:g.9323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.264G>A MANE Select	ENSP00000371554.3:p.Ala88=
ENST00000382120.3:c.264G>A	ENSP00000371554.3:p.Ala88=
NM_003102.2:c.264G>A	NP_003093.2:p.Ala88=
XR_427488.1:n.454G>A
NM_003102.3:c.264G>A	NP_003093.2:p.Ala88=
NM_003102.4:c.264G>A MANE Select	NP_003093.2:p.Ala88=