{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2077140519",
  "communityStandardTitle": [
    "NM_004004.6(GJB2):c.59T= (p.Ile20=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517519",
        "rs": 1057517519
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 20189523,
          "referenceAllele": "A",
          "start": 20189522
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20189523A=",
        "CM000675.2:g.20189523A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 20763662,
          "referenceAllele": "A",
          "start": 20763661
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20763662A=",
        "CM000675.1:g.20763662A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 19661662,
          "referenceAllele": "A",
          "start": 19661661
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19661662A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8453,
          "referenceAllele": "T",
          "start": 8452
        }
      ],
      "hgvs": [
        "NG_008358.1:g.8453T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "T",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.2:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.5:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.59T="
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.59T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Ile20="
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Ile20="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "T",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.1:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "T",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.4:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080692017",
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.5:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.1:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.2:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080692017",
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.6:c.59T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Ile20="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.59T="
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.59T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Ile20="
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Ile20="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}