Canonical Allele Identifier: CA356639377

Gene: SOD3

Linked Data

• MyVariant Identifiers: chr4:g.24801523C>T (hg19) ; chr4:g.24799901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799901C>T , CM000666.2:g.24799901C>T	GRCh38
NC_000004.11:g.24801523C>T , CM000666.1:g.24801523C>T	GRCh37
NC_000004.10:g.24410621C>T	NCBI36
NG_012213.1:g.9439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.380C>T MANE Select	ENSP00000371554.3:p.Ser127Phe
ENST00000382120.3:c.380C>T	ENSP00000371554.3:p.Ser127Phe
NM_003102.2:c.380C>T	NP_003093.2:p.Ser127Phe
XR_427488.1:n.570C>T
NM_003102.3:c.380C>T	NP_003093.2:p.Ser127Phe
NM_003102.4:c.380C>T MANE Select	NP_003093.2:p.Ser127Phe