{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172205",
  "communityStandardTitle": [
    "NM_004004.6(GJB2):c.-23+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32068[alleleid]",
        "alleleId": 32068,
        "preferredName": "NM_004004.6(GJB2):c.-23+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17029",
        "RCV": [
          "RCV000018557",
          "RCV000146002",
          "RCV000211766",
          "RCV000418755",
          "RCV000678858",
          "RCV001004401",
          "RCV000762908",
          "RCV001257033",
          "RCV001291328",
          "RCV001813995",
          "RCV002288510",
          "RCV003147300",
          "RCV003458323",
          "RCV004532386"
        ],
        "variationId": 17029
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20766921C>T?assembly=hg19",
        "id": "chr13:g.20766921C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20192782C>T?assembly=hg38",
        "id": "chr13:g.20192782C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338940",
        "rs": 80338940
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20766921-C-T?dataset=gnomad_r2_1",
        "id": "13-20766921-C-T",
        "variant": "13:20766921 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20192782-C-T?dataset=gnomad_r3",
        "id": "13-20192782-C-T",
        "variant": "13:20192782 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20192782-C-T?dataset=gnomad_r4",
        "id": "13-20192782-C-T",
        "variant": "13:20192782 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 20192782,
          "referenceAllele": "C",
          "start": 20192781
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20192782C>T",
        "CM000675.2:g.20192782C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 20766921,
          "referenceAllele": "C",
          "start": 20766920
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20766921C>T",
        "CM000675.1:g.20766921C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 19664921,
          "referenceAllele": "C",
          "start": 19664920
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19664921C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5194,
          "referenceAllele": "G",
          "start": 5193
        }
      ],
      "hgvs": [
        "NG_008358.1:g.5194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.5:c.-23+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:n.-23+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.-23+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.-23+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:n.-23+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:n.-23+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.4:c.-23+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:n.-23+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.5:c.-23+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:n.-23+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.6:c.-23+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:n.-23+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.-23+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.-23+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:n.-23+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:n.-23+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}