{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2385880088",
  "communityStandardTitle": [
    "NM_000454.5(SOD1):c.217G= (p.Gly73=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912455",
        "rs": 121912455
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 31666496,
          "referenceAllele": "G",
          "start": 31666495
        }
      ],
      "hgvs": [
        "NC_000021.9:g.31666496G=",
        "CM000683.2:g.31666496G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 33038809,
          "referenceAllele": "G",
          "start": 33038808
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33038809G=",
        "CM000683.1:g.33038809G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 31960680,
          "referenceAllele": "G",
          "start": 31960679
        }
      ],
      "hgvs": [
        "NC_000021.7:g.31960680G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11875,
          "referenceAllele": "G",
          "start": 11874
        }
      ],
      "hgvs": [
        "NG_008689.1:g.11875G=",
        "LRG_652:g.11875G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001167"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.11:c.217G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.7:p.Gly73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.217G="
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.217G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Gly73="
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Gly73="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.10:c.217G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.6:p.Gly73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000389995.4:c.160G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374645.4:p.Gly54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000470944.1:n.1145G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000476106.5:n.480G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325403",
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.4:c.217G=",
        "LRG_652t1:c.217G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Gly73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325403",
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.5:c.217G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Gly73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.217G="
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.217G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Gly73="
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Gly73="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}