{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387461578",
  "communityStandardTitle": [
    "NM_004004.6(GJB2):c.230G>C (p.Trp77Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20763491C>G?assembly=hg19",
        "id": "chr13:g.20763491C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20189352C>G?assembly=hg38",
        "id": "chr13:g.20189352C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894395",
        "rs": 104894395
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 20189352,
          "referenceAllele": "C",
          "start": 20189351
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20189352C>G",
        "CM000675.2:g.20189352C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 20763491,
          "referenceAllele": "C",
          "start": 20763490
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20763491C>G",
        "CM000675.1:g.20763491C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 19661491,
          "referenceAllele": "C",
          "start": 19661490
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19661491C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8624,
          "referenceAllele": "G",
          "start": 8623
        }
      ],
      "hgvs": [
        "NG_008358.1:g.8624G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.2:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Trp77Ser",
        "hgvsWellDefined": "ENSP00000372295.1:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.5:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Trp77Ser",
        "hgvsWellDefined": "ENSP00000372299.4:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.230G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.230G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Trp77Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Trp77Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.1:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Trp77Ser",
        "hgvsWellDefined": "ENSP00000372295.1:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.4:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Trp77Ser",
        "hgvsWellDefined": "ENSP00000372299.4:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080627453",
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.5:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Trp77Ser",
        "hgvsWellDefined": "NP_003995.2:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.1:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Trp77Ser",
        "hgvsWellDefined": "XP_011533351.1:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.2:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Trp77Ser",
        "hgvsWellDefined": "XP_011533351.1:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080627453",
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.6:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Trp77Ser",
        "hgvsWellDefined": "NP_003995.2:p.Trp77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.230G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.230G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Trp77Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Trp77Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}