{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5313625",
  "communityStandardTitle": [
    "NM_000787.4(DBH):c.1599G>A (p.Ala533=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=317609[alleleid]",
        "alleleId": 317609,
        "preferredName": "NM_000787.4(DBH):c.1599G>A (p.Ala533=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365670",
        "RCV": [
          "RCV000263473",
          "RCV003972543",
          "RCV003884514"
        ],
        "variationId": 365670
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-136522228-G-A",
        "id": "9-136522228-G-A",
        "variant": "9:136522228 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136522228G>A?assembly=hg19",
        "id": "chr9:g.136522228G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133657106G>A?assembly=hg38",
        "id": "chr9:g.133657106G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377563744",
        "rs": 377563744
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136522228-G-A?dataset=gnomad_r2_1",
        "id": "9-136522228-G-A",
        "variant": "9:136522228 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133657106-G-A?dataset=gnomad_r3",
        "id": "9-133657106-G-A",
        "variant": "9:133657106 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133657106-G-A?dataset=gnomad_r4",
        "id": "9-133657106-G-A",
        "variant": "9:133657106 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 133657106,
          "referenceAllele": "G",
          "start": 133657105
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133657106G>A",
        "CM000671.2:g.133657106G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 136522228,
          "referenceAllele": "G",
          "start": 136522227
        }
      ],
      "hgvs": [
        "NC_000009.11:g.136522228G>A",
        "CM000671.1:g.136522228G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 135512049,
          "referenceAllele": "G",
          "start": 135512048
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135512049G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25744,
          "referenceAllele": "G",
          "start": 25743
        }
      ],
      "hgvs": [
        "NG_008645.1:g.25744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.8:c.1599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Ala533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.1599G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.1599G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Ala533="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Ala533="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.6:c.1599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Ala533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215913",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.3:c.1599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Ala533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024155",
      "geneNCBI_id": 138948,
      "geneSymbol": "DBH-AS1",
      "hgvs": [
        "NR_102735.1:n.282+21C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215913",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.4:c.1599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Ala533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.1599G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.1599G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Ala533="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Ala533="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}