{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1337630342",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.749C= (p.Ser250=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307777",
        "rs": 1085307777
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 237388145,
          "referenceAllele": "G",
          "start": 237388144
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237388145G=",
        "CM000664.2:g.237388145G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 238296788,
          "referenceAllele": "G",
          "start": 238296787
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238296788G=",
        "CM000664.1:g.238296788G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 237961527,
          "referenceAllele": "G",
          "start": 237961526
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237961527G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31063,
          "referenceAllele": "C",
          "start": 31062
        }
      ],
      "hgvs": [
        "NG_008676.1:g.31063C=",
        "LRG_473:g.31063C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000682405.1:n.86-6646C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.749C="
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.749C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Ser250="
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Ser250="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 317,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000392003.6:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375860.2:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000392004.7:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375861.3:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000433762.1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389539.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 317,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.749C=",
        "LRG_473t1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057164.4:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476505.3:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067234246",
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057165.4:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476506.3:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "endIntronDirection": "+",
          "endIntronOffset": 8582,
          "referenceAllele": "C",
          "start": 539,
          "startIntronDirection": "+",
          "startIntronOffset": 8581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.91+8582C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:n.91+8582C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 8582,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 8581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.91+8582C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:n.91+8582C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.749C="
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.749C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Ser250="
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Ser250="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057164.5:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476505.3:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067234246",
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057165.5:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476506.3:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 6645,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.92-6646C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:n.92-6646C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Ser44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}