{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382967118",
  "communityStandardTitle": [
    "NM_001145018.3(DRC12):c.598C>T (p.Pro200Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2321628[alleleid]",
        "alleleId": 2321628,
        "preferredName": "NM_001145018.3(DRC12):c.598C>T (p.Pro200Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2335336",
        "RCV": [
          "RCV004552359"
        ],
        "variationId": 2335336
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119061044G>A?assembly=hg19",
        "id": "chr11:g.119061044G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119190335G>A?assembly=hg38",
        "id": "chr11:g.119190335G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758448490",
        "rs": 758448490
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119061044-G-A?dataset=gnomad_r2_1",
        "id": "11-119061044-G-A",
        "variant": "11:119061044 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119190335-G-A?dataset=gnomad_r4",
        "id": "11-119190335-G-A",
        "variant": "11:119190335 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119190335,
          "referenceAllele": "G",
          "start": 119190334
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119190335G>A",
        "CM000673.2:g.119190335G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119061044,
          "referenceAllele": "G",
          "start": 119061043
        }
      ],
      "hgvs": [
        "NC_000011.9:g.119061044G>A",
        "CM000673.1:g.119061044G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118566254,
          "referenceAllele": "G",
          "start": 118566253
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118566254G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000503566.7:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423567.2:p.Pro200Ser",
        "hgvsWellDefined": "ENSP00000423567.2:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503566.7:c.598C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145018.3:c.598C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423567.2:p.Pro200Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001138490.1:p.Pro200Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000375140.7:n.1616C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000415318.2:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445431.1:p.Pro200Ser",
        "hgvsWellDefined": "ENSP00000445431.1:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "ENST00000503566.6:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423567.2:p.Pro200Ser",
        "hgvsWellDefined": "ENSP00000423567.2:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580164297",
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "NM_001145018.1:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138490.1:p.Pro200Ser",
        "hgvsWellDefined": "NP_001138490.1:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_006718818.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718881.1:p.Pro172Ser",
        "hgvsWellDefined": "XP_006718881.1:p.Pro172Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_006718821.2:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718884.1:p.Pro257Ser",
        "hgvsWellDefined": "XP_006718884.1:p.Pro257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542759.1:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541061.1:p.Pro200Ser",
        "hgvsWellDefined": "XP_011541061.1:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542760.1:c.*87C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541062.1:n.*87C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542761.1:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541063.1:p.Pro160Ser",
        "hgvsWellDefined": "XP_011541063.1:p.Pro160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542762.1:c.*87C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541064.1:n.*87C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542763.1:c.1078C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541065.1:p.Pro360Ser",
        "hgvsWellDefined": "XP_011541065.1:p.Pro360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542764.1:c.1078C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541066.1:p.Pro360Ser",
        "hgvsWellDefined": "XP_011541066.1:p.Pro360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542765.1:c.1078C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541067.1:p.Pro360Ser",
        "hgvsWellDefined": "XP_011541067.1:p.Pro360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542766.1:c.385C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541068.1:p.Pro129Ser",
        "hgvsWellDefined": "XP_011541068.1:p.Pro129Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542769.1:c.784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541071.1:p.Pro262Ser",
        "hgvsWellDefined": "XP_011541071.1:p.Pro262Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542770.1:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541072.1:p.Pro200Ser",
        "hgvsWellDefined": "XP_011541072.1:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542771.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541073.1:p.Pro192Ser",
        "hgvsWellDefined": "XP_011541073.1:p.Pro192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542772.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541074.1:p.Pro192Ser",
        "hgvsWellDefined": "XP_011541074.1:p.Pro192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542773.1:c.784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541075.1:p.Pro262Ser",
        "hgvsWellDefined": "XP_011541075.1:p.Pro262Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XM_011542774.1:c.784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541076.1:p.Pro262Ser",
        "hgvsWellDefined": "XP_011541076.1:p.Pro262Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "XR_947824.1:n.973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580164297",
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "NM_001145018.2:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138490.1:p.Pro200Ser",
        "hgvsWellDefined": "NP_001138490.1:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580164297",
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027446",
      "geneNCBI_id": 283152,
      "geneSymbol": "DRC12",
      "hgvs": [
        "NM_001145018.3:c.598C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138490.1:p.Pro200Ser",
        "hgvsWellDefined": "NP_001138490.1:p.Pro200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503566.7:c.598C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145018.3:c.598C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423567.2:p.Pro200Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001138490.1:p.Pro200Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}