{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382590383",
  "communityStandardTitle": [
    "NM_001037954.4(DIXDC1):c.1835C>G (p.Thr612Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.111887493C>G?assembly=hg19",
        "id": "chr11:g.111887493C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.112016769C>G?assembly=hg38",
        "id": "chr11:g.112016769C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/184718561",
        "rs": 184718561
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-112016769-C-G?dataset=gnomad_r4",
        "id": "11-112016769-C-G",
        "variant": "11:112016769 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 112016769,
          "referenceAllele": "C",
          "start": 112016768
        }
      ],
      "hgvs": [
        "NC_000011.10:g.112016769C>G",
        "CM000673.2:g.112016769C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 111887493,
          "referenceAllele": "C",
          "start": 111887492
        }
      ],
      "hgvs": [
        "NC_000011.9:g.111887493C>G",
        "CM000673.1:g.111887493C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 111392703,
          "referenceAllele": "C",
          "start": 111392702
        }
      ],
      "hgvs": [
        "NC_000011.8:g.111392703C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94627,
          "referenceAllele": "C",
          "start": 94626
        }
      ],
      "hgvs": [
        "NG_033127.1:g.94627C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94626,
          "referenceAllele": "C",
          "start": 94625
        }
      ],
      "hgvs": [
        "NG_033127.2:g.94626C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706155"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "C",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "ENST00000440460.7:c.1835C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394352.3:p.Thr612Arg",
        "hgvsWellDefined": "ENSP00000394352.3:p.Thr612Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440460.7:c.1835C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001037954.4:c.1835C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394352.3:p.Thr612Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001033043.1:p.Thr612Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2132,
          "referenceAllele": "C",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "ENST00000440460.6:c.1835C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394352.3:p.Thr612Arg",
        "hgvsWellDefined": "ENSP00000394352.3:p.Thr612Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "ENST00000526500.5:n.831C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "ENST00000615255.1:c.1202C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480808.1:p.Thr401Arg",
        "hgvsWellDefined": "ENSP00000480808.1:p.Thr401Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "ENST00000618522.4:n.1188C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2132,
          "referenceAllele": "C",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "NM_001037954.3:c.1835C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001033043.1:p.Thr612Arg",
        "hgvsWellDefined": "NP_001033043.1:p.Thr612Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077763358",
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "NM_033425.4:c.1202C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_219493.1:p.Thr401Arg",
        "hgvsWellDefined": "NP_219493.1:p.Thr401Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2132,
          "referenceAllele": "C",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_005277726.3:c.1835C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005277783.1:p.Thr612Arg",
        "hgvsWellDefined": "XP_005277783.1:p.Thr612Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_005277727.3:c.1832C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005277784.1:p.Thr611Arg",
        "hgvsWellDefined": "XP_005277784.1:p.Thr611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_005277728.3:c.1202C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005277785.1:p.Thr401Arg",
        "hgvsWellDefined": "XP_005277785.1:p.Thr401Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_011543045.1:c.953C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541347.1:p.Thr318Arg",
        "hgvsWellDefined": "XP_011541347.1:p.Thr318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_011543046.1:c.947C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541348.1:p.Thr316Arg",
        "hgvsWellDefined": "XP_011541348.1:p.Thr316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_017018466.2:c.1832C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873955.1:p.Thr611Arg",
        "hgvsWellDefined": "XP_016873955.1:p.Thr611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_017018467.1:c.1832C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873956.1:p.Thr611Arg",
        "hgvsWellDefined": "XP_016873956.1:p.Thr611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_017018468.1:c.953C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873957.1:p.Thr318Arg",
        "hgvsWellDefined": "XP_016873957.1:p.Thr318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_017018469.1:c.947C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873958.1:p.Thr316Arg",
        "hgvsWellDefined": "XP_016873958.1:p.Thr316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2281,
          "referenceAllele": "C",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_024448742.1:c.1727C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304510.1:p.Thr576Arg",
        "hgvsWellDefined": "XP_024304510.1:p.Thr576Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "XM_024448743.1:c.1724C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304511.1:p.Thr575Arg",
        "hgvsWellDefined": "XP_024304511.1:p.Thr575Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "C",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "NM_001037954.4:c.1835C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001033043.1:p.Thr612Arg",
        "hgvsWellDefined": "NP_001033043.1:p.Thr612Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675868",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440460.7:c.1835C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001037954.4:c.1835C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394352.3:p.Thr612Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001033043.1:p.Thr612Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077763358",
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "C",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023695",
      "geneNCBI_id": 85458,
      "geneSymbol": "DIXDC1",
      "hgvs": [
        "NM_033425.5:c.1202C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_219493.1:p.Thr401Arg",
        "hgvsWellDefined": "NP_219493.1:p.Thr401Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728955"
    }
  ],
  "type": "nucleotide"
}