{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410037532",
  "communityStandardTitle": [
    "NM_000454.5(SOD1):c.319C>T (p.Leu107Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939068[alleleid]",
        "alleleId": 939068,
        "preferredName": "NM_000454.5(SOD1):c.319C>T (p.Leu107Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934816",
        "RCV": [
          "RCV001203287"
        ],
        "variationId": 934816
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.33039650C>T?assembly=hg19",
        "id": "chr21:g.33039650C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.31667337C>T?assembly=hg38",
        "id": "chr21:g.31667337C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912440",
        "rs": 121912440
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 31667337,
          "referenceAllele": "C",
          "start": 31667336
        }
      ],
      "hgvs": [
        "NC_000021.9:g.31667337C>T",
        "CM000683.2:g.31667337C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 33039650,
          "referenceAllele": "C",
          "start": 33039649
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33039650C>T",
        "CM000683.1:g.33039650C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 31961521,
          "referenceAllele": "C",
          "start": 31961520
        }
      ],
      "hgvs": [
        "NC_000021.7:g.31961521C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12716,
          "referenceAllele": "C",
          "start": 12715
        }
      ],
      "hgvs": [
        "NG_008689.1:g.12716C>T",
        "LRG_652:g.12716C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001167"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.11:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.7:p.Leu107Phe",
        "hgvsWellDefined": "ENSP00000270142.7:p.Leu107Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.319C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Leu107Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Leu107Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000270142.10:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270142.6:p.Leu107Phe",
        "hgvsWellDefined": "ENSP00000270142.6:p.Leu107Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000389995.4:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374645.4:p.Leu88Phe",
        "hgvsWellDefined": "ENSP00000374645.4:p.Leu88Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000470944.1:n.1247C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "ENST00000476106.5:n.582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668705",
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.4:c.319C>T",
        "LRG_652t1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Leu107Phe",
        "hgvsWellDefined": "NP_000445.1:p.Leu107Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668705",
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NM_000454.5:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000445.1:p.Leu107Phe",
        "hgvsWellDefined": "NP_000445.1:p.Leu107Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270142.11:c.319C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000454.5:c.319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270142.7:p.Leu107Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000445.1:p.Leu107Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}