{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1315404793",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.3257G= (p.Gly1086=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500203",
        "rs": 1060500203
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189007501,
          "referenceAllele": "G",
          "start": 189007500
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189007501G=",
        "CM000664.2:g.189007501G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189872227,
          "referenceAllele": "G",
          "start": 189872226
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189872227G=",
        "CM000664.1:g.189872227G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189580472,
          "referenceAllele": "G",
          "start": 189580471
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189580472G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38129,
          "referenceAllele": "G",
          "start": 38128
        }
      ],
      "hgvs": [
        "NG_007404.1:g.38129G=",
        "LRG_3:g.38129G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3275,
          "referenceAllele": "G",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.3158G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Gly1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3374,
          "referenceAllele": "G",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.3257G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Gly1086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3257G="
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3257G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly1086="
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly1086="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3427,
          "referenceAllele": "G",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.3257G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Gly1086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "endIntronDirection": "-",
          "endIntronOffset": 552,
          "referenceAllele": "G",
          "start": 2631,
          "startIntronDirection": "-",
          "startIntronOffset": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2528-553G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:n.2528-553G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3374,
          "referenceAllele": "G",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.3257G=",
        "LRG_3t1:c.3257G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Gly1086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825057765",
      "coordinates": [
        {
          "allele": "G",
          "end": 3374,
          "referenceAllele": "G",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.3257G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Gly1086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3257G="
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3257G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly1086="
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly1086="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}