{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA162582952",
  "communityStandardTitle": [
    "NM_181646.5(ZNF804B):c.108+92044T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.88481442T>C?assembly=hg19",
        "id": "chr7:g.88481442T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.88852128T>C?assembly=hg38",
        "id": "chr7:g.88852128T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10248351",
        "rs": 10248351
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-88481442-T-C?dataset=gnomad_r2_1",
        "id": "7-88481442-T-C",
        "variant": "7:88481442 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-88852128-T-C?dataset=gnomad_r3",
        "id": "7-88852128-T-C",
        "variant": "7:88852128 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-88852128-T-C?dataset=gnomad_r4",
        "id": "7-88852128-T-C",
        "variant": "7:88852128 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 88852128,
          "referenceAllele": "T",
          "start": 88852127
        }
      ],
      "hgvs": [
        "NC_000007.14:g.88852128T>C",
        "CM000669.2:g.88852128T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 88481442,
          "referenceAllele": "T",
          "start": 88481441
        }
      ],
      "hgvs": [
        "NC_000007.13:g.88481442T>C",
        "CM000669.1:g.88481442T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 88319378,
          "referenceAllele": "T",
          "start": 88319377
        }
      ],
      "hgvs": [
        "NC_000007.12:g.88319378T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 92044,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 92043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021958",
      "geneNCBI_id": 219578,
      "geneSymbol": "ZNF804B",
      "hgvs": [
        "ENST00000333190.5:c.108+92044T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329638.4:n.108+92044T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747290",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333190.5:c.108+92044T>C"
          },
          "RefSeq": {
            "hgvs": "NM_181646.5:c.108+92044T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329638.4:n.108+92044T>C"
          },
          "RefSeq": {
            "hgvs": "NP_857597.1:n.108+92044T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "endIntronDirection": "+",
          "endIntronOffset": 92044,
          "referenceAllele": "T",
          "start": 717,
          "startIntronDirection": "+",
          "startIntronOffset": 92043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021958",
      "geneNCBI_id": 219578,
      "geneSymbol": "ZNF804B",
      "hgvs": [
        "ENST00000333190.4:c.108+92044T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329638.4:n.108+92044T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "endIntronDirection": "+",
          "endIntronOffset": 92044,
          "referenceAllele": "T",
          "start": 717,
          "startIntronDirection": "+",
          "startIntronOffset": 92043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021958",
      "geneNCBI_id": 219578,
      "geneSymbol": "ZNF804B",
      "hgvs": [
        "NM_181646.3:c.108+92044T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_857597.1:n.108+92044T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "endIntronDirection": "+",
          "endIntronOffset": 92044,
          "referenceAllele": "T",
          "start": 717,
          "startIntronDirection": "+",
          "startIntronOffset": 92043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021958",
      "geneNCBI_id": 219578,
      "geneSymbol": "ZNF804B",
      "hgvs": [
        "NM_181646.4:c.108+92044T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_857597.1:n.108+92044T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 92044,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 92043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021958",
      "geneNCBI_id": 219578,
      "geneSymbol": "ZNF804B",
      "hgvs": [
        "NM_181646.5:c.108+92044T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_857597.1:n.108+92044T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700984",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333190.5:c.108+92044T>C"
          },
          "RefSeq": {
            "hgvs": "NM_181646.5:c.108+92044T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329638.4:n.108+92044T>C"
          },
          "RefSeq": {
            "hgvs": "NP_857597.1:n.108+92044T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}