{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139895347",
  "communityStandardTitle": [
    "NM_000254.3(MTR):c.2756A= (p.Asp919=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805087",
        "rs": 1805087
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2528436504",
        "rs": 2528436504
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 236885200,
          "referenceAllele": "A",
          "start": 236885199
        }
      ],
      "hgvs": [
        "NC_000001.11:g.236885200A=",
        "CM000663.2:g.236885200A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237048500,
          "referenceAllele": "A",
          "start": 237048499
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237048500A=",
        "CM000663.1:g.237048500A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235115123,
          "referenceAllele": "A",
          "start": 235115122
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235115123A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94920,
          "referenceAllele": "A",
          "start": 94919
        }
      ],
      "hgvs": [
        "NG_008959.1:g.94920A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001330"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000366577.10:c.2756A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355536.5:p.Asp919="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366577.10:c.2756A="
          },
          "RefSeq": {
            "hgvs": "NM_000254.3:c.2756A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355536.5:p.Asp919="
          },
          "RefSeq": {
            "hgvs": "NP_000245.2:p.Asp919="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "A",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000535889.6:c.2603A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441845.1:p.Asp868="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2902,
          "referenceAllele": "A",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000650888.1:c.*1798A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498393.1:n.*1798A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000651455.1:c.*1500A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498963.1:n.*1500A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2953,
          "referenceAllele": "A",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000674797.2:c.2408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502299.2:p.Asp803="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3070,
          "referenceAllele": "A",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000679569.1:n.3070A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2567,
          "referenceAllele": "A",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000679842.1:c.2567A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506109.1:p.Asp856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3200,
          "referenceAllele": "A",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000680454.1:n.3200A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2576,
          "referenceAllele": "A",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000681102.1:c.2576A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505600.1:p.Asp859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2318,
          "referenceAllele": "A",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000681177.1:c.2318A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506327.1:p.Asp773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2950,
          "referenceAllele": "A",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000681937.1:n.2950A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "referenceAllele": "A",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000366576.3:c.1418A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355535.3:p.Asp473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3150,
          "referenceAllele": "A",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000366577.9:c.2756A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355536.5:p.Asp919="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3026,
          "referenceAllele": "A",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "ENST00000535889.5:c.2603A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441845.1:p.Asp868="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063875970",
      "coordinates": [
        {
          "allele": "A",
          "end": 3179,
          "referenceAllele": "A",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "NM_000254.2:c.2756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000245.2:p.Asp919="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3026,
          "referenceAllele": "A",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "NM_001291939.1:c.2603A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278868.1:p.Asp868="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "A",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "NM_001291940.1:c.1535A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278869.1:p.Asp512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4153,
          "referenceAllele": "A",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_005273141.3:c.2753A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273198.1:p.Asp918="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4156,
          "referenceAllele": "A",
          "start": 4155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_006711769.2:c.2756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711832.1:p.Asp919="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2127,
          "referenceAllele": "A",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_006711770.1:c.1820A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711833.1:p.Asp607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3967,
          "referenceAllele": "A",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_011544193.1:c.2567A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542495.1:p.Asp856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3941,
          "referenceAllele": "A",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_011544194.1:c.2924A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542496.1:p.Asp975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3148,
          "referenceAllele": "A",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_005273141.5:c.2753A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273198.1:p.Asp918="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2127,
          "referenceAllele": "A",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_006711770.3:c.1820A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711833.1:p.Asp607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3941,
          "referenceAllele": "A",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_011544194.3:c.2924A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542496.1:p.Asp975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3788,
          "referenceAllele": "A",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_017001329.2:c.2771A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856818.1:p.Asp924="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3752,
          "referenceAllele": "A",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "XM_017001330.2:c.2735A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856819.1:p.Asp912="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "A",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "NM_001291940.2:c.1535A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278869.1:p.Asp512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063875970",
      "coordinates": [
        {
          "allele": "A",
          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007468",
      "geneNCBI_id": 4548,
      "geneSymbol": "MTR",
      "hgvs": [
        "NM_000254.3:c.2756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000245.2:p.Asp919="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366577.10:c.2756A="
          },
          "RefSeq": {
            "hgvs": "NM_000254.3:c.2756A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355536.5:p.Asp919="
          },
          "RefSeq": {
            "hgvs": "NP_000245.2:p.Asp919="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}