{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2180476273",
  "communityStandardTitle": [
    "NM_001110.4(ADAM10):c.510G= (p.Gln170=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61751103",
        "rs": 61751103
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 58665172,
          "referenceAllele": "C",
          "start": 58665171
        }
      ],
      "hgvs": [
        "NC_000015.10:g.58665172C=",
        "CM000677.2:g.58665172C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 58957371,
          "referenceAllele": "C",
          "start": 58957370
        }
      ],
      "hgvs": [
        "NC_000015.9:g.58957371C=",
        "CM000677.1:g.58957371C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 56744663,
          "referenceAllele": "C",
          "start": 56744662
        }
      ],
      "hgvs": [
        "NC_000015.8:g.56744663C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89807,
          "referenceAllele": "G",
          "start": 89806
        }
      ],
      "hgvs": [
        "NG_033876.1:g.89807G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89536,
          "referenceAllele": "G",
          "start": 89535
        }
      ],
      "hgvs": [
        "NG_033876.2:g.89536G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706159"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000260408.8:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260408.3:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260408.8:c.510G="
          },
          "RefSeq": {
            "hgvs": "NM_001110.4:c.510G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260408.3:p.Gln170="
          },
          "RefSeq": {
            "hgvs": "NP_001101.1:p.Gln170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000260408.7:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260408.3:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000396136.6:c.336G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS277114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 24341,
          "referenceAllele": "G",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 24342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000402627.5:c.56-24342G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386056.1:n.56-24342G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000439637.5:c.351G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391930.1:p.Gln117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000497846.5:n.627G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000558733.5:n.746G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 24341,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 24342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000559053.1:c.56-24342G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453952.1:n.56-24342G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 67653,
          "referenceAllele": "G",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 67654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "ENST00000561288.1:c.56-67654G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452639.1:n.56-67654G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081913007",
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "NM_001110.3:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001101.1:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "XM_005254117.2:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254174.1:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "NM_001320570.1:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307499.1:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "XM_024449818.1:c.288G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305586.1:p.Gln96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081913007",
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "NM_001110.4:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001101.1:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260408.8:c.510G="
          },
          "RefSeq": {
            "hgvs": "NM_001110.4:c.510G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260408.3:p.Gln170="
          },
          "RefSeq": {
            "hgvs": "NP_001101.1:p.Gln170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "NM_001320570.2:c.510G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307499.1:p.Gln170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684955"
    }
  ],
  "type": "nucleotide"
}