{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2077160421",
  "communityStandardTitle": [
    "NM_001110219.3(GJB6):c.119C= (p.Ala40=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780320724",
        "rs": 780320724
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 20223362,
          "referenceAllele": "G",
          "start": 20223361
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20223362G=",
        "CM000675.2:g.20223362G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 20797501,
          "referenceAllele": "G",
          "start": 20797500
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20797501G=",
        "CM000675.1:g.20797501G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 19695501,
          "referenceAllele": "G",
          "start": 19695500
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19695501G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14034,
          "referenceAllele": "C",
          "start": 14033
        }
      ],
      "hgvs": [
        "NG_008323.1:g.14034C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000241124.11:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241124.6:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000400066.8:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382939.3:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000636852.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489698.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000642251.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495437.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000643121.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494468.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000643211.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495841.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000644236.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494122.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000644283.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495320.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000644667.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493621.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000645654.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494720.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000646108.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493512.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000647029.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493834.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647029.1:c.119C="
          },
          "RefSeq": {
            "hgvs": "NM_001110219.3:c.119C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493834.1:p.Ala40="
          },
          "RefSeq": {
            "hgvs": "NP_001103689.1:p.Ala40="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000647243.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494733.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000241124.10:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241124.6:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000356192.6:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348521.6:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000400065.7:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382938.3:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "ENST00000400066.7:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382939.3:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001110219.2:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001103689.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001110220.2:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001103690.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001110221.2:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001103691.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080747905",
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_006783.4:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006774.2:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001110219.3:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001103689.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647029.1:c.119C="
          },
          "RefSeq": {
            "hgvs": "NM_001110219.3:c.119C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493834.1:p.Ala40="
          },
          "RefSeq": {
            "hgvs": "NP_001103689.1:p.Ala40="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001370090.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357019.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001370091.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357020.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001370092.1:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357021.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001110220.3:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001103690.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_001110221.3:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001103691.1:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712094"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080747905",
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_006783.5:c.119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006774.2:p.Ala40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727779"
    }
  ],
  "type": "nucleotide"
}