Canonical Allele Identifier: CA550665324

Gene: SOD3

Linked Data

• dbSNP Id: rs1477747205
• gnomAD v2: 4-24801873-C-G
• gnomAD v3: 4-24800251-C-G
• gnomAD v4: 4-24800251-C-G
• MyVariant Identifiers: chr4:g.24801873C>G (hg19) ; chr4:g.24800251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800251C>G , CM000666.2:g.24800251C>G	GRCh38
NC_000004.11:g.24801873C>G , CM000666.1:g.24801873C>G	GRCh37
NC_000004.10:g.24410971C>G	NCBI36
NG_012213.1:g.9789C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.*7C>G MANE Select	ENSP00000371554.3:n.*7C>G
ENST00000382120.3:c.*7C>G	ENSP00000371554.3:n.*7C>G
NM_003102.2:c.*7C>G	NP_003093.2:n.*7C>G
XR_427488.1:n.920C>G
NM_003102.3:c.*7C>G	NP_003093.2:n.*7C>G
NM_003102.4:c.*7C>G MANE Select	NP_003093.2:n.*7C>G