{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1315405635",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.3823+3A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3231190[alleleid]",
        "alleleId": 3231190,
        "preferredName": "NM_000090.4(COL3A1):c.3823+3A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3074054",
        "RCV": [
          "RCV004012596"
        ],
        "variationId": 3074054
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1688666817",
        "rs": 1688666817
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189009224-A-G?dataset=gnomad_r4",
        "id": "2-189009224-A-G",
        "variant": "2:189009224 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189009224,
          "referenceAllele": "A",
          "start": 189009223
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189009224A>G",
        "CM000664.2:g.189009224A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189873950,
          "referenceAllele": "A",
          "start": 189873949
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189873950A>G",
        "CM000664.1:g.189873950A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189582195,
          "referenceAllele": "A",
          "start": 189582194
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189582195A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39852,
          "referenceAllele": "A",
          "start": 39851
        }
      ],
      "hgvs": [
        "NG_007404.1:g.39852A>G",
        "LRG_3:g.39852A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3841,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 3841,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.3724+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:n.3724+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3940,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 3940,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.3823+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:n.3823+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3823+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3823+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:n.3823+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:n.3823+3A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3993,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 3993,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.3823+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:n.3823+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3018,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 3018,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2914+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:n.2914+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 920,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000487010.1:n.920+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3940,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 3940,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.3823+3A>G",
        "LRG_3t1:c.3823+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:n.3823+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3940,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 3940,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.3823+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:n.3823+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3823+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3823+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:n.3823+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:n.3823+3A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}