{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123122",
  "communityStandardTitle": [
    "NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28508[alleleid]",
        "alleleId": 28508,
        "preferredName": "NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13469",
        "RCV": [
          "RCV000014411"
        ],
        "variationId": 13469
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.5154436G>T?assembly=hg19",
        "id": "chr12:g.5154436G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.5045270G>T?assembly=hg38",
        "id": "chr12:g.5045270G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908590",
        "rs": 121908590
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-5045270-G-T?dataset=gnomad_r4",
        "id": "12-5045270-G-T",
        "variant": "12:5045270 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5045270,
          "referenceAllele": "G",
          "start": 5045269
        }
      ],
      "hgvs": [
        "NC_000012.12:g.5045270G>T",
        "CM000674.2:g.5045270G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5154436,
          "referenceAllele": "G",
          "start": 5154435
        }
      ],
      "hgvs": [
        "NC_000012.11:g.5154436G>T",
        "CM000674.1:g.5154436G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5024697,
          "referenceAllele": "G",
          "start": 5024696
        }
      ],
      "hgvs": [
        "NC_000012.10:g.5024697G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6352,
          "referenceAllele": "G",
          "start": 6351
        }
      ],
      "hgvs": [
        "NG_012198.1:g.6352G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002281"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "ENST00000252321.5:c.1123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252321.3:p.Glu375Ter",
        "hgvsWellDefined": "ENSP00000252321.3:p.Glu375_Leu613delinsLeuAlaGluGlnGlnProGlyGlyGlyGlyGlyGlyGlnAsnGlyGlnGlnAlaMetSerLeuAlaIleLeuArgValIleArgLeuValArgValPheArgIlePheLysLeuSerArgHisSerLysGlyLeuGlnIleLeuGlyLysThrLeuGlnAlaSerMetArgGluLeuGlyLeuLeuIlePhePheLeuPheIleGlyValIleLeuPheSerSerAlaValTyrPheAlaGluAlaAspAsnGlnGlyThrHisPheSerSerIleProAspAlaPheTrpTrpAlaValValThrMetThrThrValGlyTyrGlyAspMetArgProIleThrValGlyGlyLysIleValGlySerLeuCysAlaIleAlaGlyValLeuThrIleAlaLeuProValProValIleValSerAsnPheAsnTyrPheTyrHisArgGluThrAspHisGluGluProAlaValLeuLysGluGluGlnGlyThrGlnSerGlnGlyProGlyLeuAspArgGlyValGlnArgLysValSerGlySerArgGlySerPheCysLysAlaGlyGlyThrLeuGluAsnAlaAspSerAlaArgArgGlySerCysProLeuGluLysCysAsnValLysAlaLysSerAsnValAspLeuArgArgSerLeuTyrAlaLeuCysLeuAspThrSerArgGluThrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252321.5:c.1123G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002234.4:c.1123G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252321.3:p.Glu375Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002225.2:p.Glu375Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "ENST00000252321.4:c.1123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252321.3:p.Glu375Ter",
        "hgvsWellDefined": "ENSP00000252321.3:p.Glu375_Leu613delinsLeuAlaGluGlnGlnProGlyGlyGlyGlyGlyGlyGlnAsnGlyGlnGlnAlaMetSerLeuAlaIleLeuArgValIleArgLeuValArgValPheArgIlePheLysLeuSerArgHisSerLysGlyLeuGlnIleLeuGlyLysThrLeuGlnAlaSerMetArgGluLeuGlyLeuLeuIlePhePheLeuPheIleGlyValIleLeuPheSerSerAlaValTyrPheAlaGluAlaAspAsnGlnGlyThrHisPheSerSerIleProAspAlaPheTrpTrpAlaValValThrMetThrThrValGlyTyrGlyAspMetArgProIleThrValGlyGlyLysIleValGlySerLeuCysAlaIleAlaGlyValLeuThrIleAlaLeuProValProValIleValSerAsnPheAsnTyrPheTyrHisArgGluThrAspHisGluGluProAlaValLeuLysGluGluGlnGlyThrGlnSerGlnGlyProGlyLeuAspArgGlyValGlnArgLysValSerGlySerArgGlySerPheCysLysAlaGlyGlyThrLeuGluAsnAlaAspSerAlaArgArgGlySerCysProLeuGluLysCysAsnValLysAlaLysSerAsnValAspLeuArgArgSerLeuTyrAlaLeuCysLeuAspThrSerArgGluThrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123123",
      "coordinates": [
        {
          "allele": "T",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "NM_002234.3:c.1123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002225.2:p.Glu375Ter",
        "hgvsWellDefined": "NP_002225.2:p.Glu375_Leu613delinsLeuAlaGluGlnGlnProGlyGlyGlyGlyGlyGlyGlnAsnGlyGlnGlnAlaMetSerLeuAlaIleLeuArgValIleArgLeuValArgValPheArgIlePheLysLeuSerArgHisSerLysGlyLeuGlnIleLeuGlyLysThrLeuGlnAlaSerMetArgGluLeuGlyLeuLeuIlePhePheLeuPheIleGlyValIleLeuPheSerSerAlaValTyrPheAlaGluAlaAspAsnGlnGlyThrHisPheSerSerIleProAspAlaPheTrpTrpAlaValValThrMetThrThrValGlyTyrGlyAspMetArgProIleThrValGlyGlyLysIleValGlySerLeuCysAlaIleAlaGlyValLeuThrIleAlaLeuProValProValIleValSerAsnPheAsnTyrPheTyrHisArgGluThrAspHisGluGluProAlaValLeuLysGluGluGlnGlyThrGlnSerGlnGlyProGlyLeuAspArgGlyValGlnArgLysValSerGlySerArgGlySerPheCysLysAlaGlyGlyThrLeuGluAsnAlaAspSerAlaArgArgGlySerCysProLeuGluLysCysAsnValLysAlaLysSerAsnValAspLeuArgArgSerLeuTyrAlaLeuCysLeuAspThrSerArgGluThrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123123",
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006224",
      "geneNCBI_id": 3741,
      "geneSymbol": "KCNA5",
      "hgvs": [
        "NM_002234.4:c.1123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002225.2:p.Glu375Ter",
        "hgvsWellDefined": "NP_002225.2:p.Glu375_Leu613delinsLeuAlaGluGlnGlnProGlyGlyGlyGlyGlyGlyGlnAsnGlyGlnGlnAlaMetSerLeuAlaIleLeuArgValIleArgLeuValArgValPheArgIlePheLysLeuSerArgHisSerLysGlyLeuGlnIleLeuGlyLysThrLeuGlnAlaSerMetArgGluLeuGlyLeuLeuIlePhePheLeuPheIleGlyValIleLeuPheSerSerAlaValTyrPheAlaGluAlaAspAsnGlnGlyThrHisPheSerSerIleProAspAlaPheTrpTrpAlaValValThrMetThrThrValGlyTyrGlyAspMetArgProIleThrValGlyGlyLysIleValGlySerLeuCysAlaIleAlaGlyValLeuThrIleAlaLeuProValProValIleValSerAsnPheAsnTyrPheTyrHisArgGluThrAspHisGluGluProAlaValLeuLysGluGluGlnGlyThrGlnSerGlnGlyProGlyLeuAspArgGlyValGlnArgLysValSerGlySerArgGlySerPheCysLysAlaGlyGlyThrLeuGluAsnAlaAspSerAlaArgArgGlySerCysProLeuGluLysCysAsnValLysAlaLysSerAsnValAspLeuArgArgSerLeuTyrAlaLeuCysLeuAspThrSerArgGluThrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252321.5:c.1123G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002234.4:c.1123G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252321.3:p.Glu375Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002225.2:p.Glu375Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}