Canonical Allele Identifier: CA1445077681
Gene: SOD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799696C= , CM000666.2:g.24799696C= GRCh38
NC_000004.11:g.24801318C= , CM000666.1:g.24801318C= GRCh37
NC_000004.10:g.24410416C= NCBI36
NG_012213.1:g.9234C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.175C= MANE Select ENSP00000371554.3:p.Leu59=
ENST00000382120.3:c.175C= ENSP00000371554.3:p.Leu59=
NM_003102.2:c.175C= NP_003093.2:p.Leu59=
XR_427488.1:n.365C=
NM_003102.3:c.175C= NP_003093.2:p.Leu59=
NM_003102.4:c.175C= MANE Select NP_003093.2:p.Leu59=
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