{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA716201",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.218G>A (p.Arg73His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1019362[alleleid]",
        "alleleId": 1019362,
        "preferredName": "NM_001371928.1(AHDC1):c.218G>A (p.Arg73His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1033213",
        "RCV": [
          "RCV001548001",
          "RCV001335558",
          "RCV003169566"
        ],
        "variationId": 1033213
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-27878409-C-T",
        "id": "1-27878409-C-T",
        "variant": "1:27878409 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27878409C>T?assembly=hg19",
        "id": "chr1:g.27878409C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27551898C>T?assembly=hg38",
        "id": "chr1:g.27551898C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745907116",
        "rs": 745907116
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27878409-C-T?dataset=gnomad_r2_1",
        "id": "1-27878409-C-T",
        "variant": "1:27878409 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27551898-C-T?dataset=gnomad_r3",
        "id": "1-27551898-C-T",
        "variant": "1:27551898 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27551898-C-T?dataset=gnomad_r4",
        "id": "1-27551898-C-T",
        "variant": "1:27551898 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 27551898,
          "referenceAllele": "C",
          "start": 27551897
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27551898C>T",
        "CM000663.2:g.27551898C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 27878409,
          "referenceAllele": "C",
          "start": 27878408
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27878409C>T",
        "CM000663.1:g.27878409C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 27750996,
          "referenceAllele": "C",
          "start": 27750995
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27750996C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56597,
          "referenceAllele": "G",
          "start": 56596
        }
      ],
      "hgvs": [
        "NG_034158.1:g.56597G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Arg73His",
        "hgvsWellDefined": "ENSP00000247087.4:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000487743.3:n.359-48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Arg73His",
        "hgvsWellDefined": "ENSP00000495072.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Arg73His",
        "hgvsWellDefined": "ENSP00000494394.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 1079,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000643308.1:n.1080-48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Arg73His",
        "hgvsWellDefined": "ENSP00000495665.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Arg73His",
        "hgvsWellDefined": "ENSP00000501218.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.218G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.218G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Arg73His"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Arg73His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Arg73His",
        "hgvsWellDefined": "ENSP00000247087.4:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Arg73His",
        "hgvsWellDefined": "ENSP00000363123.2:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825343573",
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "G",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001029882.3:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025053.1:p.Arg73His",
        "hgvsWellDefined": "NP_001025053.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245905.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "referenceAllele": "G",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245906.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "referenceAllele": "G",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245907.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245908.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245909.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541255.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539557.1:p.Arg73His",
        "hgvsWellDefined": "XP_011539557.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Arg73His",
        "hgvsWellDefined": "XP_011539558.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Arg73His",
        "hgvsWellDefined": "XP_011539559.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.1:n.1175G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.3:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245905.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.3:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245906.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.3:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245907.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.3:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245908.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.3:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Arg73His",
        "hgvsWellDefined": "XP_005245909.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "G",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Arg73His",
        "hgvsWellDefined": "XP_011539558.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.2:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Arg73His",
        "hgvsWellDefined": "XP_011539559.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_024446461.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Arg73His",
        "hgvsWellDefined": "XP_024302229.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.1285G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499254691",
      "coordinates": [
        {
          "allele": "A",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Arg73His",
        "hgvsWellDefined": "NP_001358857.1:p.Arg73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.218G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.218G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Arg73His"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Arg73His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}