{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581126",
  "communityStandardTitle": [
    "NM_002241.5(KCNJ10):c.194G= (p.Arg65=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853066",
        "rs": 137853066
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 160042339,
          "referenceAllele": "C",
          "start": 160042338
        }
      ],
      "hgvs": [
        "NC_000001.11:g.160042339C=",
        "CM000663.2:g.160042339C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 160012129,
          "referenceAllele": "C",
          "start": 160012128
        }
      ],
      "hgvs": [
        "NC_000001.10:g.160012129C=",
        "CM000663.1:g.160012129C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 158278753,
          "referenceAllele": "C",
          "start": 158278752
        }
      ],
      "hgvs": [
        "NC_000001.9:g.158278753C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32833,
          "referenceAllele": "G",
          "start": 32832
        }
      ],
      "hgvs": [
        "NG_016411.1:g.32833G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003168"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000509700.2:c.166G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "endIntronDirection": "-",
          "endIntronOffset": 2990,
          "referenceAllele": "G",
          "start": 94,
          "startIntronDirection": "-",
          "startIntronOffset": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000636689.1:n.95-2991G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000637644.1:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490282.1:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000638728.1:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492619.1:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000638868.1:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491250.1:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000639408.1:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491635.1:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000640017.1:c.164G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491337.1:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000644903.1:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495557.1:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644903.1:c.194G="
          },
          "RefSeq": {
            "hgvs": "NM_002241.5:c.194G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495557.1:p.Arg65="
          },
          "RefSeq": {
            "hgvs": "NP_002232.2:p.Arg65="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000368089.3:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357068.3:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916523",
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "NM_002241.4:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002232.2:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916523",
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "NM_002241.5:c.194G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002232.2:p.Arg65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644903.1:c.194G="
          },
          "RefSeq": {
            "hgvs": "NM_002241.5:c.194G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495557.1:p.Arg65="
          },
          "RefSeq": {
            "hgvs": "NP_002232.2:p.Arg65="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}