{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1021813780",
  "communityStandardTitle": [
    "NM_000454.5(SOD1):c.169+192T>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10432782",
        "rs": 10432782
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-31664078-T-C?dataset=gnomad_r3",
        "id": "21-31664078-T-C",
        "variant": "21:31664078 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-31664078-T-C?dataset=gnomad_r4",
        "id": "21-31664078-T-C",
        "variant": "21:31664078 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 31664078,
          "referenceAllele": "T",
          "start": 31664077
        }
      ],
      "hgvs": [
        "NC_000021.9:g.31664078T>C",
        "CM000683.2:g.31664078T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 33036391,
          "referenceAllele": "T",
          "start": 33036390
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33036391T>C",
        "CM000683.1:g.33036391T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 31958262,
          "referenceAllele": "T",
          "start": 31958261
        }
      ],
      "hgvs": [
        "NC_000021.7:g.31958262T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9457,
          "referenceAllele": "T",
          "start": 9456
        }
      ],
      "hgvs": [
        "NG_008689.1:g.9457T>C",
        "LRG_652:g.9457T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001167"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.11:c.169+192T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.7:n.169+192T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.169+192T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.169+192T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:n.169+192T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:n.169+192T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.10:c.169+192T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.6:n.169+192T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 216,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000389995.4:c.112+192T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374645.4:n.112+192T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 1097,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000470944.1:n.1097+192T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 432,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000476106.5:n.432+192T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.4:c.169+192T>C",
        "LRG_652t1:c.169+192T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:n.169+192T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 192,
          "referenceAllele": "T",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.5:c.169+192T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:n.169+192T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.169+192T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.169+192T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:n.169+192T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:n.169+192T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}