{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1315403181",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.2879G= (p.Gly960=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912922",
        "rs": 121912922
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189004312,
          "referenceAllele": "G",
          "start": 189004311
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189004312G=",
        "CM000664.2:g.189004312G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189869038,
          "referenceAllele": "G",
          "start": 189869037
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189869038G=",
        "CM000664.1:g.189869038G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189577283,
          "referenceAllele": "G",
          "start": 189577282
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189577283G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34940,
          "referenceAllele": "G",
          "start": 34939
        }
      ],
      "hgvs": [
        "NG_007404.1:g.34940G=",
        "LRG_3:g.34940G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.2780G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Gly927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2996,
          "referenceAllele": "G",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.2879G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Gly960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.2879G="
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.2879G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly960="
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly960="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3049,
          "referenceAllele": "G",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.2879G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Gly960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "endIntronDirection": "+",
          "endIntronOffset": 1276,
          "referenceAllele": "G",
          "start": 2631,
          "startIntronDirection": "+",
          "startIntronOffset": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2527+1276G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:n.2527+1276G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2996,
          "referenceAllele": "G",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.2879G=",
        "LRG_3t1:c.2879G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Gly960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526463",
      "coordinates": [
        {
          "allele": "G",
          "end": 2996,
          "referenceAllele": "G",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.2879G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Gly960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.2879G="
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.2879G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly960="
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly960="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}