{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6318090",
  "communityStandardTitle": [
    "NM_001145018.3(DRC12):c.367G>C (p.Ala123Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2199285[alleleid]",
        "alleleId": 2199285,
        "preferredName": "NM_001145018.3(DRC12):c.367G>C (p.Ala123Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2215847",
        "RCV": [
          "RCV004550502"
        ],
        "variationId": 2215847
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-119061532-C-G",
        "id": "11-119061532-C-G",
        "variant": "11:119061532 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119061532C>G?assembly=hg19",
        "id": "chr11:g.119061532C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119190823C>G?assembly=hg38",
        "id": "chr11:g.119190823C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751209983",
        "rs": 751209983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119061532-C-G?dataset=gnomad_r2_1",
        "id": "11-119061532-C-G",
        "variant": "11:119061532 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119190823-C-G?dataset=gnomad_r3",
        "id": "11-119190823-C-G",
        "variant": "11:119190823 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119190823-C-G?dataset=gnomad_r4",
        "id": "11-119190823-C-G",
        "variant": "11:119190823 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119190823,
          "referenceAllele": "C",
          "start": 119190822
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119190823C>G",
        "CM000673.2:g.119190823C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119061532,
          "referenceAllele": "C",
          "start": 119061531
        }
      ],
      "hgvs": [
        "NC_000011.9:g.119061532C>G",
        "CM000673.1:g.119061532C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118566742,
          "referenceAllele": "C",
          "start": 118566741
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118566742C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000503566.7:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423567.2:p.Ala123Pro",
        "hgvsWellDefined": "ENSP00000423567.2:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503566.7:c.367G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001145018.3:c.367G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423567.2:p.Ala123Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001138490.1:p.Ala123Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000375140.7:n.1385G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000415318.2:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445431.1:p.Ala123Pro",
        "hgvsWellDefined": "ENSP00000445431.1:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000503566.6:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423567.2:p.Ala123Pro",
        "hgvsWellDefined": "ENSP00000423567.2:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580164292",
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "NM_001145018.1:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138490.1:p.Ala123Pro",
        "hgvsWellDefined": "NP_001138490.1:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_006718818.2:c.283G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718881.1:p.Ala95Pro",
        "hgvsWellDefined": "XP_006718881.1:p.Ala95Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_006718821.2:c.538G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718884.1:p.Ala180Pro",
        "hgvsWellDefined": "XP_006718884.1:p.Ala180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542759.1:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541061.1:p.Ala123Pro",
        "hgvsWellDefined": "XP_011541061.1:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542760.1:c.474G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541062.1:p.Arg158Ser",
        "hgvsWellDefined": "XP_011541062.1:p.Arg158Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542761.1:c.247G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541063.1:p.Ala83Pro",
        "hgvsWellDefined": "XP_011541063.1:p.Ala83Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542762.1:c.354G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541064.1:p.Arg118Ser",
        "hgvsWellDefined": "XP_011541064.1:p.Arg118Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "G",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542763.1:c.847G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541065.1:p.Ala283Pro",
        "hgvsWellDefined": "XP_011541065.1:p.Ala283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542764.1:c.847G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541066.1:p.Ala283Pro",
        "hgvsWellDefined": "XP_011541066.1:p.Ala283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542765.1:c.847G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541067.1:p.Ala283Pro",
        "hgvsWellDefined": "XP_011541067.1:p.Ala283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542766.1:c.154G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541068.1:p.Ala52Pro",
        "hgvsWellDefined": "XP_011541068.1:p.Ala52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542769.1:c.553G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541071.1:p.Ala185Pro",
        "hgvsWellDefined": "XP_011541071.1:p.Ala185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542770.1:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541072.1:p.Ala123Pro",
        "hgvsWellDefined": "XP_011541072.1:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542771.1:c.343G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541073.1:p.Ala115Pro",
        "hgvsWellDefined": "XP_011541073.1:p.Ala115Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542772.1:c.343G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541074.1:p.Ala115Pro",
        "hgvsWellDefined": "XP_011541074.1:p.Ala115Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542773.1:c.553G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541075.1:p.Ala185Pro",
        "hgvsWellDefined": "XP_011541075.1:p.Ala185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542774.1:c.553G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541076.1:p.Ala185Pro",
        "hgvsWellDefined": "XP_011541076.1:p.Ala185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XR_947824.1:n.742G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580164292",
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "NM_001145018.2:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138490.1:p.Ala123Pro",
        "hgvsWellDefined": "NP_001138490.1:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580164292",
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "NM_001145018.3:c.367G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138490.1:p.Ala123Pro",
        "hgvsWellDefined": "NP_001138490.1:p.Ala123Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503566.7:c.367G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001145018.3:c.367G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423567.2:p.Ala123Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001138490.1:p.Ala123Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}