{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2436388167",
  "communityStandardTitle": [
    "NM_000166.6(GJB1):c.123G= (p.Glu41=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840816",
        "rs": 116840816
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 71223830,
          "referenceAllele": "G",
          "start": 71223829
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71223830G=",
        "CM000685.2:g.71223830G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 70443680,
          "referenceAllele": "G",
          "start": 70443679
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70443680G=",
        "CM000685.1:g.70443680G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 70360405,
          "referenceAllele": "G",
          "start": 70360404
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70360405G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13619,
          "referenceAllele": "G",
          "start": 13618
        }
      ],
      "hgvs": [
        "NG_008357.1:g.13619G=",
        "LRG_245:g.13619G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000361726.7:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354900.6:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361726.7:c.123G="
          },
          "RefSeq": {
            "hgvs": "NM_000166.6:c.123G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354900.6:p.Glu41="
          },
          "RefSeq": {
            "hgvs": "NP_000157.1:p.Glu41="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000374029.2:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363141.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000447581.2:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407223.2:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000645009.2:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494142.2:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000646835.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494596.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "referenceAllele": "G",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000647424.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495960.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000674549.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502766.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000674844.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502556.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000675209.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501813.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000675368.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501757.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000675609.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501571.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000361726.6:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354900.6:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "referenceAllele": "G",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000374022.3:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363134.3:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000374029.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363141.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "ENST00000447581.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407223.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063195832",
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_000166.5:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000157.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "referenceAllele": "G",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_001097642.2:c.123G=",
        "LRG_245t1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001091111.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "XM_011530907.1:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529209.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "XM_011530907.2:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529209.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063195832",
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_000166.6:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000157.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361726.7:c.123G="
          },
          "RefSeq": {
            "hgvs": "NM_000166.6:c.123G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354900.6:p.Glu41="
          },
          "RefSeq": {
            "hgvs": "NP_000157.1:p.Glu41="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NM_001097642.3:c.123G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001091111.1:p.Glu41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711896"
    }
  ],
  "type": "nucleotide"
}