{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA716130",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2414618[alleleid]",
        "alleleId": 2414618,
        "preferredName": "NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2438936",
        "RCV": [
          "RCV003141271"
        ],
        "variationId": 2438936
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-27878053-G-A",
        "id": "1-27878053-G-A",
        "variant": "1:27878053 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27878053G>A?assembly=hg19",
        "id": "chr1:g.27878053G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27551542G>A?assembly=hg38",
        "id": "chr1:g.27551542G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139975681",
        "rs": 139975681
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27878053-G-A?dataset=gnomad_r2_1",
        "id": "1-27878053-G-A",
        "variant": "1:27878053 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27551542-G-A?dataset=gnomad_r3",
        "id": "1-27551542-G-A",
        "variant": "1:27551542 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27551542-G-A?dataset=gnomad_r4",
        "id": "1-27551542-G-A",
        "variant": "1:27551542 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27551542,
          "referenceAllele": "G",
          "start": 27551541
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27551542G>A",
        "CM000663.2:g.27551542G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27878053,
          "referenceAllele": "G",
          "start": 27878052
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27878053G>A",
        "CM000663.1:g.27878053G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27750640,
          "referenceAllele": "G",
          "start": 27750639
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27750640G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56953,
          "referenceAllele": "C",
          "start": 56952
        }
      ],
      "hgvs": [
        "NG_034158.1:g.56953C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000247087.4:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000495072.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000494394.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "C",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000643308.1:n.1388C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000495665.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000501218.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.574C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.574C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Arg192Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Arg192Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000247087.4:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Arg192Trp",
        "hgvsWellDefined": "ENSP00000363123.2:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825343629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001029882.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025053.1:p.Arg192Trp",
        "hgvsWellDefined": "NP_001025053.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1530,
          "referenceAllele": "C",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245905.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245906.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245907.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245908.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245909.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541255.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539557.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_011539557.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1649,
          "referenceAllele": "C",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_011539558.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_011539559.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.1:n.1531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245905.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245906.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245907.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245908.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.3:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_005245909.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "C",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_011539558.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2514,
          "referenceAllele": "C",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_011539559.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_024446461.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Arg192Trp",
        "hgvsWellDefined": "XP_024302229.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.1641C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580220546",
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Arg192Trp",
        "hgvsWellDefined": "NP_001358857.1:p.Arg192Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.574C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.574C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Arg192Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Arg192Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}