{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141565692",
  "communityStandardTitle": [
    "NM_024009.3(GJB3):c.580G= (p.Ala194=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/117385606",
        "rs": 117385606
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 34785342,
          "referenceAllele": "G",
          "start": 34785341
        }
      ],
      "hgvs": [
        "NC_000001.11:g.34785342G=",
        "CM000663.2:g.34785342G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 35250943,
          "referenceAllele": "G",
          "start": 35250942
        }
      ],
      "hgvs": [
        "NC_000001.10:g.35250943G=",
        "CM000663.1:g.35250943G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 35023530,
          "referenceAllele": "G",
          "start": 35023529
        }
      ],
      "hgvs": [
        "NC_000001.9:g.35023530G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9154,
          "referenceAllele": "G",
          "start": 9153
        }
      ],
      "hgvs": [
        "NG_008309.1:g.9154G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "ENST00000373366.3:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362464.2:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373366.3:c.580G="
          },
          "RefSeq": {
            "hgvs": "NM_024009.3:c.580G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362464.2:p.Ala194="
          },
          "RefSeq": {
            "hgvs": "NP_076872.1:p.Ala194="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "ENST00000373362.3:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362460.3:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "ENST00000373366.2:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362464.2:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 66932,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 66933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025154",
      "geneNCBI_id": 113444,
      "geneSymbol": "SMIM12",
      "hgvs": [
        "ENST00000426886.1:c.208-66933C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429902.1:n.208-66933C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_001005752.1:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005752.1:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007781"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063915951",
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_024009.2:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_076872.1:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 13029,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 13028
        }
      ],
      "hgvs": [
        "XR_947179.1:n.1001+13029C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "endIntronDirection": "+",
          "endIntronOffset": 13029,
          "referenceAllele": "C",
          "start": 1023,
          "startIntronDirection": "+",
          "startIntronOffset": 13028
        }
      ],
      "hgvs": [
        "XR_001737967.1:n.1023+13029C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588591"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063915951",
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_024009.3:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_076872.1:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670568",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373366.3:c.580G="
          },
          "RefSeq": {
            "hgvs": "NM_024009.3:c.580G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362464.2:p.Ala194="
          },
          "RefSeq": {
            "hgvs": "NP_076872.1:p.Ala194="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_001005752.2:c.580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005752.1:p.Ala194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675213"
    }
  ],
  "type": "nucleotide"
}