{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123126",
  "communityStandardTitle": [
    "NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28510[alleleid]",
        "alleleId": 28510,
        "preferredName": "NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13471",
        "RCV": [
          "RCV000014413"
        ],
        "variationId": 13471
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-5155040-C-T",
        "id": "12-5155040-C-T",
        "variant": "12:5155040 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.5155040C>T?assembly=hg19",
        "id": "chr12:g.5155040C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.5045874C>T?assembly=hg38",
        "id": "chr12:g.5045874C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908592",
        "rs": 121908592
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-5155040-C-T?dataset=gnomad_r2_1",
        "id": "12-5155040-C-T",
        "variant": "12:5155040 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-5045874-C-T?dataset=gnomad_r3",
        "id": "12-5045874-C-T",
        "variant": "12:5045874 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-5045874-C-T?dataset=gnomad_r4",
        "id": "12-5045874-C-T",
        "variant": "12:5045874 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5045874,
          "referenceAllele": "C",
          "start": 5045873
        }
      ],
      "hgvs": [
        "NC_000012.12:g.5045874C>T",
        "CM000674.2:g.5045874C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5155040,
          "referenceAllele": "C",
          "start": 5155039
        }
      ],
      "hgvs": [
        "NC_000012.11:g.5155040C>T",
        "CM000674.1:g.5155040C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5025301,
          "referenceAllele": "C",
          "start": 5025300
        }
      ],
      "hgvs": [
        "NC_000012.10:g.5025301C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6956,
          "referenceAllele": "C",
          "start": 6955
        }
      ],
      "hgvs": [
        "NG_012198.1:g.6956C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002281"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "ENST00000252321.5:c.1727C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252321.3:p.Ala576Val",
        "hgvsWellDefined": "ENSP00000252321.3:p.Ala576Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252321.5:c.1727C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002234.4:c.1727C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252321.3:p.Ala576Val"
          },
          "RefSeq": {
            "hgvs": "NP_002225.2:p.Ala576Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "ENST00000252321.4:c.1727C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252321.3:p.Ala576Val",
        "hgvsWellDefined": "ENSP00000252321.3:p.Ala576Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123127",
      "coordinates": [
        {
          "allele": "T",
          "end": 1956,
          "referenceAllele": "C",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "NM_002234.3:c.1727C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002225.2:p.Ala576Val",
        "hgvsWellDefined": "NP_002225.2:p.Ala576Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123127",
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "NM_002234.4:c.1727C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002225.2:p.Ala576Val",
        "hgvsWellDefined": "NP_002225.2:p.Ala576Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252321.5:c.1727C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002234.4:c.1727C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252321.3:p.Ala576Val"
          },
          "RefSeq": {
            "hgvs": "NP_002225.2:p.Ala576Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}