{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA383246329",
  "communityStandardTitle": [
    "NM_000890.5(KCNJ5):c.169A>C (p.Ser57Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.128781337A>C?assembly=hg19",
        "id": "chr11:g.128781337A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.128911442A>C?assembly=hg38",
        "id": "chr11:g.128911442A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 128911442,
          "referenceAllele": "A",
          "start": 128911441
        }
      ],
      "hgvs": [
        "NC_000011.10:g.128911442A>C",
        "CM000673.2:g.128911442A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 128781337,
          "referenceAllele": "A",
          "start": 128781336
        }
      ],
      "hgvs": [
        "NC_000011.9:g.128781337A>C",
        "CM000673.1:g.128781337A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 128286547,
          "referenceAllele": "A",
          "start": 128286546
        }
      ],
      "hgvs": [
        "NC_000011.8:g.128286547A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25025,
          "referenceAllele": "A",
          "start": 25024
        }
      ],
      "hgvs": [
        "NG_023406.2:g.25025A>C",
        "LRG_333:g.25025A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003844"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "ENST00000529694.6:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433295.1:p.Ser57Arg",
        "hgvsWellDefined": "ENSP00000433295.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000529694.6:c.169A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000890.5:c.169A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000433295.1:p.Ser57Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000881.3:p.Ser57Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "A",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "ENST00000338350.4:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339960.4:p.Ser57Arg",
        "hgvsWellDefined": "ENSP00000339960.4:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "ENST00000529694.5:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433295.1:p.Ser57Arg",
        "hgvsWellDefined": "ENSP00000433295.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "referenceAllele": "A",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "ENST00000533599.1:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434266.1:p.Ser57Arg",
        "hgvsWellDefined": "ENSP00000434266.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077692936",
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "NM_000890.3:c.169A>C",
        "LRG_333t1:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000881.3:p.Ser57Arg",
        "hgvsWellDefined": "NP_000881.3:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "XM_011542809.1:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541111.1:p.Ser57Arg",
        "hgvsWellDefined": "XP_011541111.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 252,
          "referenceAllele": "A",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "XM_011542810.1:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541112.1:p.Ser57Arg",
        "hgvsWellDefined": "XP_011541112.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077692936",
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "A",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "NM_000890.4:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000881.3:p.Ser57Arg",
        "hgvsWellDefined": "NP_000881.3:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249366366",
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "NM_001354169.1:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341098.1:p.Ser57Arg",
        "hgvsWellDefined": "NP_001341098.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "XM_011542809.2:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541111.1:p.Ser57Arg",
        "hgvsWellDefined": "XP_011541111.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "XM_011542810.3:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541112.1:p.Ser57Arg",
        "hgvsWellDefined": "XP_011541112.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077692936",
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "NM_000890.5:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000881.3:p.Ser57Arg",
        "hgvsWellDefined": "NP_000881.3:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000529694.6:c.169A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000890.5:c.169A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000433295.1:p.Ser57Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000881.3:p.Ser57Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249366366",
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006266",
      "geneNCBI_id": 3762,
      "geneSymbol": "KCNJ5",
      "hgvs": [
        "NM_001354169.2:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341098.1:p.Ser57Arg",
        "hgvsWellDefined": "NP_001341098.1:p.Ser57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690104"
    }
  ],
  "type": "nucleotide"
}