Canonical Allele Identifier: CA356638702

Gene: SOD3

Linked Data

• MyVariant Identifiers: chr4:g.24801354C>G (hg19) ; chr4:g.24799732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799732C>G , CM000666.2:g.24799732C>G	GRCh38
NC_000004.11:g.24801354C>G , CM000666.1:g.24801354C>G	GRCh37
NC_000004.10:g.24410452C>G	NCBI36
NG_012213.1:g.9270C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.211C>G MANE Select	ENSP00000371554.3:p.Leu71Val
ENST00000382120.3:c.211C>G	ENSP00000371554.3:p.Leu71Val
NM_003102.2:c.211C>G	NP_003093.2:p.Leu71Val
XR_427488.1:n.401C>G
NM_003102.3:c.211C>G	NP_003093.2:p.Leu71Val
NM_003102.4:c.211C>G MANE Select	NP_003093.2:p.Leu71Val