{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA870275139",
  "communityStandardTitle": [
    "NM_000868.4(HTR2C):c.-697C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.114584109C>A?assembly=hg38",
        "id": "chrX:g.114584109C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/518147",
        "rs": 518147
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-114584109-C-A?dataset=gnomad_r3",
        "id": "X-114584109-C-A",
        "variant": "X:114584109 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-114584109-C-A?dataset=gnomad_r4",
        "id": "X-114584109-C-A",
        "variant": "X:114584109 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 114584109,
          "referenceAllele": "C",
          "start": 114584108
        }
      ],
      "hgvs": [
        "NC_000023.11:g.114584109C>A",
        "CM000685.2:g.114584109C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "hgvs": [
        "NG_012082.2:g.5025C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "hgvs": [
        "NG_012082.3:g.5025C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733335"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24,
          "referenceAllele": "C",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "ENST00000276198.6:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276198.1:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743412",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276198.6:c.-697C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000868.4:c.-697C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276198.1:n.-697C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000859.2:n.-697C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "ENST00000276198.5:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276198.1:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "referenceAllele": "C",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "ENST00000371950.3:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361018.3:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "ENST00000371951.5:c.-788C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361019.1:n.-788C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "NM_000868.3:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000859.1:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "NM_001256760.2:c.-788C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243689.1:n.-788C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "NM_001256761.2:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243690.1:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24,
          "referenceAllele": "C",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "NM_000868.4:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000859.2:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276198.6:c.-697C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000868.4:c.-697C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276198.1:n.-697C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000859.2:n.-697C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24,
          "referenceAllele": "C",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "NM_001256760.3:c.-788C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243689.2:n.-788C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24,
          "referenceAllele": "C",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005295",
      "geneNCBI_id": 3358,
      "geneSymbol": "HTR2C",
      "hgvs": [
        "NM_001256761.3:c.-697C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243690.2:n.-697C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714834"
    }
  ],
  "type": "nucleotide"
}