{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359721189",
  "communityStandardTitle": [
    "NM_021147.5(CCNO):c.775C>G (p.Gln259Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.54527481G>C?assembly=hg19",
        "id": "chr5:g.54527481G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.55231653G>C?assembly=hg38",
        "id": "chr5:g.55231653G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503388",
        "rs": 1060503388
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-55231653-G-C?dataset=gnomad_r4",
        "id": "5-55231653-G-C",
        "variant": "5:55231653 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 55231653,
          "referenceAllele": "G",
          "start": 55231652
        }
      ],
      "hgvs": [
        "NC_000005.10:g.55231653G>C",
        "CM000667.2:g.55231653G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 54527481,
          "referenceAllele": "G",
          "start": 54527480
        }
      ],
      "hgvs": [
        "NC_000005.9:g.54527481G>C",
        "CM000667.1:g.54527481G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 54563238,
          "referenceAllele": "G",
          "start": 54563237
        }
      ],
      "hgvs": [
        "NC_000005.8:g.54563238G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7065,
          "referenceAllele": "C",
          "start": 7064
        }
      ],
      "hgvs": [
        "NG_034201.1:g.7065C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "hgvs": [
        "NG_051620.1:g.663C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617024"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "ENST00000282572.5:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282572.4:p.Gln259Glu",
        "hgvsWellDefined": "ENSP00000282572.4:p.Gln259Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282572.5:c.775C>G"
          },
          "RefSeq": {
            "hgvs": "NM_021147.5:c.775C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282572.4:p.Gln259Glu"
          },
          "RefSeq": {
            "hgvs": "NP_066970.3:p.Gln259Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "ENST00000282572.4:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282572.4:p.Gln259Glu",
        "hgvsWellDefined": "ENSP00000282572.4:p.Gln259Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "ENST00000501463.2:c.*755C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422485.1:n.*755C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334844"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071407143",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NM_021147.4:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066970.3:p.Gln259Glu",
        "hgvsWellDefined": "NP_066970.3:p.Gln259Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NR_125346.1:n.1345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NR_125347.1:n.974C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NR_125348.1:n.839C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071407143",
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NM_021147.5:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066970.3:p.Gln259Glu",
        "hgvsWellDefined": "NP_066970.3:p.Gln259Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670233",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282572.5:c.775C>G"
          },
          "RefSeq": {
            "hgvs": "NM_021147.5:c.775C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282572.4:p.Gln259Glu"
          },
          "RefSeq": {
            "hgvs": "NP_066970.3:p.Gln259Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NR_125346.2:n.1236C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018576",
      "geneNCBI_id": 10309,
      "geneSymbol": "CCNO",
      "hgvs": [
        "NR_125347.2:n.865C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730754"
    }
  ],
  "type": "nucleotide"
}