{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130822871",
  "communityStandardTitle": [
    "NM_000679.4(ADRA1B):c.949+23110C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.159367971C>T?assembly=hg19",
        "id": "chr5:g.159367971C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.159940964C>T?assembly=hg38",
        "id": "chr5:g.159940964C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11750092",
        "rs": 11750092
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-159367971-C-T?dataset=gnomad_r2_1",
        "id": "5-159367971-C-T",
        "variant": "5:159367971 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-159940964-C-T?dataset=gnomad_r3",
        "id": "5-159940964-C-T",
        "variant": "5:159940964 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-159940964-C-T?dataset=gnomad_r4",
        "id": "5-159940964-C-T",
        "variant": "5:159940964 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 159940964,
          "referenceAllele": "C",
          "start": 159940963
        }
      ],
      "hgvs": [
        "NC_000005.10:g.159940964C>T",
        "CM000667.2:g.159940964C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 159367971,
          "referenceAllele": "C",
          "start": 159367970
        }
      ],
      "hgvs": [
        "NC_000005.9:g.159367971C>T",
        "CM000667.1:g.159367971C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 159300549,
          "referenceAllele": "C",
          "start": 159300548
        }
      ],
      "hgvs": [
        "NC_000005.8:g.159300549C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "endIntronDirection": "+",
          "endIntronOffset": 23110,
          "referenceAllele": "C",
          "start": 1373,
          "startIntronDirection": "+",
          "startIntronOffset": 23109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "ENST00000306675.5:c.949+23110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306662.3:n.949+23110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745310",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306675.5:c.949+23110C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000679.4:c.949+23110C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306662.3:n.949+23110C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000670.1:n.949+23110C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "endIntronDirection": "+",
          "endIntronOffset": 23110,
          "referenceAllele": "C",
          "start": 1072,
          "startIntronDirection": "+",
          "startIntronOffset": 23109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "ENST00000306675.3:c.949+23110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306662.3:n.949+23110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "endIntronDirection": "+",
          "endIntronOffset": 23110,
          "referenceAllele": "C",
          "start": 1122,
          "startIntronDirection": "+",
          "startIntronOffset": 23109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "NM_000679.3:c.949+23110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000670.1:n.949+23110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 6725,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 6726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_005265818.2:c.950-6726C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265875.1:n.950-6726C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 14148,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 14149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_005265819.2:c.950-14149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265876.1:n.950-14149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "+",
          "endIntronOffset": 23110,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "+",
          "startIntronOffset": 23109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_006714821.2:c.949+23110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714884.1:n.949+23110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "endIntronDirection": "+",
          "endIntronOffset": 15368,
          "referenceAllele": "C",
          "start": 1127,
          "startIntronDirection": "+",
          "startIntronOffset": 15367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_011534435.1:c.1057+15368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532737.1:n.1057+15368C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "endIntronDirection": "-",
          "endIntronOffset": 14135,
          "referenceAllele": "C",
          "start": 1127,
          "startIntronDirection": "-",
          "startIntronOffset": 14136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_011534436.1:c.1058-14136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532738.1:n.1058-14136C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "endIntronDirection": "-",
          "endIntronOffset": 6725,
          "referenceAllele": "C",
          "start": 1127,
          "startIntronDirection": "-",
          "startIntronOffset": 6726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_011534437.1:c.1058-6726C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532739.1:n.1058-6726C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "endIntronDirection": "-",
          "endIntronOffset": 14148,
          "referenceAllele": "C",
          "start": 1127,
          "startIntronDirection": "-",
          "startIntronOffset": 14149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_011534439.1:c.1058-14149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532741.1:n.1058-14149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 6725,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 6726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_005265818.3:c.950-6726C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265875.1:n.950-6726C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "+",
          "endIntronOffset": 23110,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "+",
          "startIntronOffset": 23109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_006714821.3:c.949+23110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714884.1:n.949+23110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "endIntronDirection": "-",
          "endIntronOffset": 6725,
          "referenceAllele": "C",
          "start": 1127,
          "startIntronDirection": "-",
          "startIntronOffset": 6726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "XM_011534437.2:c.1058-6726C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532739.1:n.1058-6726C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "hgvs": [
        "XR_001742950.1:n.654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "endIntronDirection": "+",
          "endIntronOffset": 23110,
          "referenceAllele": "C",
          "start": 1373,
          "startIntronDirection": "+",
          "startIntronOffset": 23109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000278",
      "geneNCBI_id": 147,
      "geneSymbol": "ADRA1B",
      "hgvs": [
        "NM_000679.4:c.949+23110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000670.1:n.949+23110C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306675.5:c.949+23110C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000679.4:c.949+23110C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306662.3:n.949+23110C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000670.1:n.949+23110C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}