Canonical Allele Identifier: CA2876250
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs748596636
ExAC: 4:24801422 C / G
gnomAD v2: 4-24801422-C-G
gnomAD v3: 4-24799800-C-G
gnomAD v4: 4-24799800-C-G
MyVariant Identifiers: chr4:g.24801422C>G (hg19) chr4:g.24799800C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799800C>G , CM000666.2:g.24799800C>G GRCh38
NC_000004.11:g.24801422C>G , CM000666.1:g.24801422C>G GRCh37
NC_000004.10:g.24410520C>G NCBI36
NG_012213.1:g.9338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.279C>G MANE Select ENSP00000371554.3:p.Leu93=
ENST00000382120.3:c.279C>G ENSP00000371554.3:p.Leu93=
NM_003102.2:c.279C>G NP_003093.2:p.Leu93=
XR_427488.1:n.469C>G
NM_003102.3:c.279C>G NP_003093.2:p.Leu93=
NM_003102.4:c.279C>G MANE Select NP_003093.2:p.Leu93=
Search 100 bp 5'
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