{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2385881089",
  "communityStandardTitle": [
    "NM_000454.5(SOD1):c.436G= (p.Ala146=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912447",
        "rs": 121912447
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 31668549,
          "referenceAllele": "G",
          "start": 31668548
        }
      ],
      "hgvs": [
        "NC_000021.9:g.31668549G=",
        "CM000683.2:g.31668549G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 33040862,
          "referenceAllele": "G",
          "start": 33040861
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33040862G=",
        "CM000683.1:g.33040862G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 31962733,
          "referenceAllele": "G",
          "start": 31962732
        }
      ],
      "hgvs": [
        "NC_000021.7:g.31962733G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13928,
          "referenceAllele": "G",
          "start": 13927
        }
      ],
      "hgvs": [
        "NG_008689.1:g.13928G=",
        "LRG_652:g.13928G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001167"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.11:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.7:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Ala146="
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Ala146="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.10:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.6:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000389995.4:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374645.4:p.Ala127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000470944.1:n.1364G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325415",
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.4:c.436G=",
        "LRG_652t1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325415",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.5:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Ala146="
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Ala146="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}