{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275244",
  "communityStandardTitle": [
    "NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194306[alleleid]",
        "alleleId": 194306,
        "preferredName": "NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197145",
        "RCV": [
          "RCV000178103",
          "RCV000255754",
          "RCV000492500",
          "RCV003398894"
        ],
        "variationId": 197145
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.33039672T>C?assembly=hg19",
        "id": "chr21:g.33039672T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.31667359T>C?assembly=hg38",
        "id": "chr21:g.31667359T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912441",
        "rs": 121912441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-33039672-T-C?dataset=gnomad_r2_1",
        "id": "21-33039672-T-C",
        "variant": "21:33039672 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-31667359-T-C?dataset=gnomad_r3",
        "id": "21-31667359-T-C",
        "variant": "21:31667359 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-31667359-T-C?dataset=gnomad_r4",
        "id": "21-31667359-T-C",
        "variant": "21:31667359 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 31667359,
          "referenceAllele": "T",
          "start": 31667358
        }
      ],
      "hgvs": [
        "NC_000021.9:g.31667359T>C",
        "CM000683.2:g.31667359T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 33039672,
          "referenceAllele": "T",
          "start": 33039671
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33039672T>C",
        "CM000683.1:g.33039672T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 31961543,
          "referenceAllele": "T",
          "start": 31961542
        }
      ],
      "hgvs": [
        "NC_000021.7:g.31961543T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12738,
          "referenceAllele": "T",
          "start": 12737
        }
      ],
      "hgvs": [
        "NG_008689.1:g.12738T>C",
        "LRG_652:g.12738T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001167"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.11:c.341T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.7:p.Ile114Thr",
        "hgvsWellDefined": "ENSP00000270142.7:p.Ile114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.341T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.341T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Ile114Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Ile114Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.10:c.341T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.6:p.Ile114Thr",
        "hgvsWellDefined": "ENSP00000270142.6:p.Ile114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000389995.4:c.284T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374645.4:p.Ile95Thr",
        "hgvsWellDefined": "ENSP00000374645.4:p.Ile95Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000470944.1:n.1269T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110711",
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.4:c.341T>C",
        "LRG_652t1:c.341T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Ile114Thr",
        "hgvsWellDefined": "NP_000445.1:p.Ile114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110711",
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.5:c.341T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Ile114Thr",
        "hgvsWellDefined": "NP_000445.1:p.Ile114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.341T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.341T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Ile114Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Ile114Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}