{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339235621",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442817[alleleid]",
        "alleleId": 442817,
        "preferredName": "NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450264",
        "RCV": [
          "RCV000519432",
          "RCV001563684"
        ],
        "variationId": 450264
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27877648G>A?assembly=hg19",
        "id": "chr1:g.27877648G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27551137G>A?assembly=hg38",
        "id": "chr1:g.27551137G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553159753",
        "rs": 1553159753
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27551137,
          "referenceAllele": "G",
          "start": 27551136
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27551137G>A",
        "CM000663.2:g.27551137G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27877648,
          "referenceAllele": "G",
          "start": 27877647
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27877648G>A",
        "CM000663.1:g.27877648G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27750235,
          "referenceAllele": "G",
          "start": 27750234
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27750235G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57358,
          "referenceAllele": "C",
          "start": 57357
        }
      ],
      "hgvs": [
        "NG_034158.1:g.57358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000643308.1:n.1793C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.979C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.979C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln327Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln327Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001029882.3:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025053.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "C",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541255.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539557.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2054,
          "referenceAllele": "C",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1632,
          "referenceAllele": "C",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1936,
          "referenceAllele": "C",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.1:n.1936C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.3:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.3:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "C",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.3:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.3:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.3:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2164,
          "referenceAllele": "C",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2919,
          "referenceAllele": "C",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_024446461.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.2046C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Gln327Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.979C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.979C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln327Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln327Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}