{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1501199585",
  "communityStandardTitle": [
    "NM_172250.3(MMAA):c.653G= (p.Gly218=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864309730",
        "rs": 864309730
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 145646076,
          "referenceAllele": "G",
          "start": 145646075
        }
      ],
      "hgvs": [
        "NC_000004.12:g.145646076G=",
        "CM000666.2:g.145646076G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 146567228,
          "referenceAllele": "G",
          "start": 146567227
        }
      ],
      "hgvs": [
        "NC_000004.11:g.146567228G=",
        "CM000666.1:g.146567228G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 146786678,
          "referenceAllele": "G",
          "start": 146786677
        }
      ],
      "hgvs": [
        "NC_000004.10:g.146786678G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31779,
          "referenceAllele": "G",
          "start": 31778
        }
      ],
      "hgvs": [
        "NG_007536.1:g.31779G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52035,
          "referenceAllele": "G",
          "start": 52034
        }
      ],
      "hgvs": [
        "NG_007536.2:g.52035G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.5:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.3:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000647947.1:c.*437G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496781.1:n.*437G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000648388.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497046.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649156.2:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497008.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.653G="
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.653G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Gly218="
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Gly218="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649173.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497871.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649704.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497680.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679563.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506503.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679930.1:c.*172G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506293.1:n.*172G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000281317.9:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281317.5:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000506919.1:n.1141G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000511969.4:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427422.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.4:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.2:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070227769",
      "coordinates": [
        {
          "allele": "G",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.2:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.1:c.158G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Gly53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070227769",
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.3:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.653G="
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.653G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Gly218="
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Gly218="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.3:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.2:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.158G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Gly53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Gly218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}