{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA203900",
  "communityStandardTitle": [
    "NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75586[alleleid]",
        "alleleId": 75586,
        "preferredName": "NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64622",
        "RCV": [
          "RCV000185622",
          "RCV000513765",
          "RCV001853081"
        ],
        "variationId": 64622
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-121768709-G-A",
        "id": "6-121768709-G-A",
        "variant": "6:121768709 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.121768709G>A?assembly=hg19",
        "id": "chr6:g.121768709G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.121447563G>A?assembly=hg38",
        "id": "chr6:g.121447563G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764670582",
        "rs": 764670582
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-121768709-G-A?dataset=gnomad_r2_1",
        "id": "6-121768709-G-A",
        "variant": "6:121768709 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-121447563-G-A?dataset=gnomad_r3",
        "id": "6-121447563-G-A",
        "variant": "6:121447563 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-121447563-G-A?dataset=gnomad_r4",
        "id": "6-121447563-G-A",
        "variant": "6:121447563 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 121447563,
          "referenceAllele": "G",
          "start": 121447562
        }
      ],
      "hgvs": [
        "NC_000006.12:g.121447563G>A",
        "CM000668.2:g.121447563G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 121768709,
          "referenceAllele": "G",
          "start": 121768708
        }
      ],
      "hgvs": [
        "NC_000006.11:g.121768709G>A",
        "CM000668.1:g.121768709G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 121810408,
          "referenceAllele": "G",
          "start": 121810407
        }
      ],
      "hgvs": [
        "NC_000006.10:g.121810408G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16965,
          "referenceAllele": "G",
          "start": 16964
        }
      ],
      "hgvs": [
        "NG_008308.1:g.16965G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000282561.4:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282561.3:p.Arg239Gln",
        "hgvsWellDefined": "ENSP00000282561.3:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743673",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282561.4:c.716G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000165.5:c.716G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282561.3:p.Arg239Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000156.1:p.Arg239Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000647564.1:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497565.1:p.Arg239Gln",
        "hgvsWellDefined": "ENSP00000497565.1:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000649003.1:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497283.1:p.Arg239Gln",
        "hgvsWellDefined": "ENSP00000497283.1:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000650427.1:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497367.1:p.Arg239Gln",
        "hgvsWellDefined": "ENSP00000497367.1:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "ENST00000282561.3:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282561.3:p.Arg239Gln",
        "hgvsWellDefined": "ENSP00000282561.3:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096763",
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NM_000165.4:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000156.1:p.Arg239Gln",
        "hgvsWellDefined": "NP_000156.1:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096763",
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NM_000165.5:c.716G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000156.1:p.Arg239Gln",
        "hgvsWellDefined": "NP_000156.1:p.Arg239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282561.4:c.716G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000165.5:c.716G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282561.3:p.Arg239Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000156.1:p.Arg239Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}