Canonical Allele Identifier: CA1445033087
Gene: SOD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800082G= , CM000666.2:g.24800082G= GRCh38
NC_000004.11:g.24801704G= , CM000666.1:g.24801704G= GRCh37
NC_000004.10:g.24410802G= NCBI36
NG_012213.1:g.9620G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.561G= MANE Select ENSP00000371554.3:p.Leu187=
ENST00000382120.3:c.561G= ENSP00000371554.3:p.Leu187=
NM_003102.2:c.561G= NP_003093.2:p.Leu187=
XR_427488.1:n.751G=
NM_003102.3:c.561G= NP_003093.2:p.Leu187=
NM_003102.4:c.561G= MANE Select NP_003093.2:p.Leu187=
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