{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1880966997",
  "communityStandardTitle": [
    "NM_000113.3(TOR1A):c.361G= (p.Glu121=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199535970",
        "rs": 199535970
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 129822664,
          "referenceAllele": "C",
          "start": 129822663
        }
      ],
      "hgvs": [
        "NC_000009.12:g.129822664C=",
        "CM000671.2:g.129822664C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132584943,
          "referenceAllele": "C",
          "start": 132584942
        }
      ],
      "hgvs": [
        "NC_000009.11:g.132584943C=",
        "CM000671.1:g.132584943C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 131624764,
          "referenceAllele": "C",
          "start": 131624763
        }
      ],
      "hgvs": [
        "NC_000009.10:g.131624764C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6499,
          "referenceAllele": "G",
          "start": 6498
        }
      ],
      "hgvs": [
        "NG_008049.1:g.6499G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000805"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "ENST00000351698.5:c.361G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345719.4:p.Glu121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351698.5:c.361G="
          },
          "RefSeq": {
            "hgvs": "NM_000113.3:c.361G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345719.4:p.Glu121="
          },
          "RefSeq": {
            "hgvs": "NP_000104.1:p.Glu121="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "ENST00000651202.1:c.457G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498222.1:p.Glu153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "ENST00000351698.4:c.361G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345719.4:p.Glu121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "ENST00000473084.1:n.380G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "ENST00000473604.2:n.471G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075660858",
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "NM_000113.2:c.361G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000104.1:p.Glu121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "XR_929731.1:n.521G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "XR_929731.3:n.389G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075660858",
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003098",
      "geneNCBI_id": 1861,
      "geneSymbol": "TOR1A",
      "hgvs": [
        "NM_000113.3:c.361G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000104.1:p.Glu121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662319",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351698.5:c.361G="
          },
          "RefSeq": {
            "hgvs": "NM_000113.3:c.361G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345719.4:p.Glu121="
          },
          "RefSeq": {
            "hgvs": "NP_000104.1:p.Glu121="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}