{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139848804",
  "communityStandardTitle": [
    "NM_001785.3(CDA):c.435C= (p.Thr145=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1048977",
        "rs": 1048977
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 20618562,
          "referenceAllele": "C",
          "start": 20618561
        }
      ],
      "hgvs": [
        "NC_000001.11:g.20618562C=",
        "CM000663.2:g.20618562C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 20945055,
          "referenceAllele": "C",
          "start": 20945054
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20945055C=",
        "CM000663.1:g.20945055C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 20817642,
          "referenceAllele": "C",
          "start": 20817641
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20817642C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001712",
      "geneNCBI_id": 978,
      "geneSymbol": "CDA",
      "hgvs": [
        "ENST00000375071.4:c.435C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364212.3:p.Thr145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751548",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375071.4:c.435C="
          },
          "RefSeq": {
            "hgvs": "NM_001785.3:c.435C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364212.3:p.Thr145="
          },
          "RefSeq": {
            "hgvs": "NP_001776.1:p.Thr145="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001712",
      "geneNCBI_id": 978,
      "geneSymbol": "CDA",
      "hgvs": [
        "ENST00000375071.3:c.435C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364212.3:p.Thr145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001712",
      "geneNCBI_id": 978,
      "geneSymbol": "CDA",
      "hgvs": [
        "ENST00000461985.1:n.421C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874192",
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001712",
      "geneNCBI_id": 978,
      "geneSymbol": "CDA",
      "hgvs": [
        "NM_001785.2:c.435C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001776.1:p.Thr145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874192",
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001712",
      "geneNCBI_id": 978,
      "geneSymbol": "CDA",
      "hgvs": [
        "NM_001785.3:c.435C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001776.1:p.Thr145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375071.4:c.435C="
          },
          "RefSeq": {
            "hgvs": "NM_001785.3:c.435C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364212.3:p.Thr145="
          },
          "RefSeq": {
            "hgvs": "NP_001776.1:p.Thr145="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}