{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1501193020",
  "communityStandardTitle": [
    "NM_172250.3(MMAA):c.397C= (p.Gln133=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754545360",
        "rs": 754545360
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 145639536,
          "referenceAllele": "C",
          "start": 145639535
        }
      ],
      "hgvs": [
        "NC_000004.12:g.145639536C=",
        "CM000666.2:g.145639536C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 146560688,
          "referenceAllele": "C",
          "start": 146560687
        }
      ],
      "hgvs": [
        "NC_000004.11:g.146560688C=",
        "CM000666.1:g.146560688C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 146780138,
          "referenceAllele": "C",
          "start": 146780137
        }
      ],
      "hgvs": [
        "NC_000004.10:g.146780138C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25239,
          "referenceAllele": "C",
          "start": 25238
        }
      ],
      "hgvs": [
        "NG_007536.1:g.25239C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45495,
          "referenceAllele": "C",
          "start": 45494
        }
      ],
      "hgvs": [
        "NG_007536.2:g.45495C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.5:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.3:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000647947.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496781.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000648388.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497046.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649156.2:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497008.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.397C="
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.397C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Gln133="
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Gln133="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649173.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497871.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649704.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497680.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679563.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506503.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679930.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506293.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000281317.9:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281317.5:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000506919.1:n.885C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000511969.4:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427422.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.4:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.2:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070060720",
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.2:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 538,
          "referenceAllele": "C",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070060720",
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.3:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.397C="
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.397C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Gln133="
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Gln133="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.3:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.2:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:n.-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Gln133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}