{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115059",
  "communityStandardTitle": [
    "NM_002150.3(HPD):c.774T>G (p.Tyr258Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16613[alleleid]",
        "alleleId": 16613,
        "preferredName": "NM_002150.3(HPD):c.774T>G (p.Tyr258Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1574",
        "RCV": [
          "RCV000001640"
        ],
        "variationId": 1574
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.122284825A>C?assembly=hg19",
        "id": "chr12:g.122284825A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121846919A>C?assembly=hg38",
        "id": "chr12:g.121846919A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852866",
        "rs": 137852866
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 121846919,
          "referenceAllele": "A",
          "start": 121846918
        }
      ],
      "hgvs": [
        "NC_000012.12:g.121846919A>C",
        "CM000674.2:g.121846919A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 122284825,
          "referenceAllele": "A",
          "start": 122284824
        }
      ],
      "hgvs": [
        "NC_000012.11:g.122284825A>C",
        "CM000674.1:g.122284825A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 120769208,
          "referenceAllele": "A",
          "start": 120769207
        }
      ],
      "hgvs": [
        "NC_000012.10:g.120769208A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46693,
          "referenceAllele": "T",
          "start": 46692
        }
      ],
      "hgvs": [
        "NG_016461.1:g.46693T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003203"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "T",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005147",
      "geneNCBI_id": 3242,
      "geneSymbol": "HPD",
      "hgvs": [
        "ENST00000289004.8:c.774T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289004.4:p.Tyr258Ter",
        "hgvsWellDefined": "ENSP00000289004.4:p.Tyr258_Met393delinsAsnGlyGlyAlaGlyValGlnHisIleAlaLeuLysThrGluAspIleIleThrAlaIleArgHisLeuArgGluArgGlyLeuGluPheLeuSerValProSerThrTyrTyrLysGlnLeuArgGluLysLeuLysThrAlaLysIleLysValLysGluAsnIleAspAlaLeuGluGluLeuLysIleLeuValAspTyrAspGluLysGlyTyrLeuLeuGlnIlePheThrLysProValGlnAspArgProThrLeuPheLeuGluValIleGlnArgHisAsnHisGlnGlyPheGlyAlaGlyAsnPheAsnSerLeuPheLysAlaPheGluGluGluGlnAsnLeuArgGlyAsnLeuThrAsnMetGluThrAsnGlyValValProGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253549",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289004.8:c.774T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002150.3:c.774T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289004.4:p.Tyr258Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002141.2:p.Tyr258Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "T",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005147",
      "geneNCBI_id": 3242,
      "geneSymbol": "HPD",
      "hgvs": [
        "ENST00000543163.5:c.657T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441677.1:p.Tyr219Ter",
        "hgvsWellDefined": "ENSP00000441677.1:p.Tyr219_Met354delinsAsnGlyGlyAlaGlyValGlnHisIleAlaLeuLysThrGluAspIleIleThrAlaIleArgHisLeuArgGluArgGlyLeuGluPheLeuSerValProSerThrTyrTyrLysGlnLeuArgGluLysLeuLysThrAlaLysIleLysValLysGluAsnIleAspAlaLeuGluGluLeuLysIleLeuValAspTyrAspGluLysGlyTyrLeuLeuGlnIlePheThrLysProValGlnAspArgProThrLeuPheLeuGluValIleGlnArgHisAsnHisGlnGlyPheGlyAlaGlyAsnPheAsnSerLeuPheLysAlaPheGluGluGluGlnAsnLeuArgGlyAsnLeuThrAsnMetGluThrAsnGlyValValProGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "T",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005147",
      "geneNCBI_id": 3242,
      "geneSymbol": "HPD",
      "hgvs": [
        "NM_001171993.1:c.657T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165464.1:p.Tyr219Ter",
        "hgvsWellDefined": "NP_001165464.1:p.Tyr219_Met354delinsAsnGlyGlyAlaGlyValGlnHisIleAlaLeuLysThrGluAspIleIleThrAlaIleArgHisLeuArgGluArgGlyLeuGluPheLeuSerValProSerThrTyrTyrLysGlnLeuArgGluLysLeuLysThrAlaLysIleLysValLysGluAsnIleAspAlaLeuGluGluLeuLysIleLeuValAspTyrAspGluLysGlyTyrLeuLeuGlnIlePheThrLysProValGlnAspArgProThrLeuPheLeuGluValIleGlnArgHisAsnHisGlnGlyPheGlyAlaGlyAsnPheAsnSerLeuPheLysAlaPheGluGluGluGlnAsnLeuArgGlyAsnLeuThrAsnMetGluThrAsnGlyValValProGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115061",
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "T",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005147",
      "geneNCBI_id": 3242,
      "geneSymbol": "HPD",
      "hgvs": [
        "NM_002150.2:c.774T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002141.1:p.Tyr258Ter",
        "hgvsWellDefined": "NP_002141.1:p.Tyr258_Met393delinsAsnGlyGlyAlaGlyValGlnHisIleAlaLeuLysThrGluAspIleIleThrAlaIleArgHisLeuArgGluArgGlyLeuGluPheLeuSerValProSerThrTyrTyrLysGlnLeuArgGluLysLeuLysThrAlaLysIleLysValLysGluAsnIleAspAlaLeuGluGluLeuLysIleLeuValAspTyrAspGluLysGlyTyrLeuLeuGlnIlePheThrLysProValGlnAspArgProThrLeuPheLeuGluValIleGlnArgHisAsnHisGlnGlyPheGlyAlaGlyAsnPheAsnSerLeuPheLysAlaPheGluGluGluGlnAsnLeuArgGlyAsnLeuThrAsnMetGluThrAsnGlyValValProGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984895",
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "T",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005147",
      "geneNCBI_id": 3242,
      "geneSymbol": "HPD",
      "hgvs": [
        "NM_002150.3:c.774T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002141.2:p.Tyr258Ter",
        "hgvsWellDefined": "NP_002141.2:p.Tyr258_Met393delinsAsnGlyGlyAlaGlyValGlnHisIleAlaLeuLysThrGluAspIleIleThrAlaIleArgHisLeuArgGluArgGlyLeuGluPheLeuSerValProSerThrTyrTyrLysGlnLeuArgGluLysLeuLysThrAlaLysIleLysValLysGluAsnIleAspAlaLeuGluGluLeuLysIleLeuValAspTyrAspGluLysGlyTyrLeuLeuGlnIlePheThrLysProValGlnAspArgProThrLeuPheLeuGluValIleGlnArgHisAsnHisGlnGlyPheGlyAlaGlyAsnPheAsnSerLeuPheLysAlaPheGluGluGluGlnAsnLeuArgGlyAsnLeuThrAsnMetGluThrAsnGlyValValProGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289004.8:c.774T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002150.3:c.774T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289004.4:p.Tyr258Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002141.2:p.Tyr258Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA115060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "T",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005147",
      "geneNCBI_id": 3242,
      "geneSymbol": "HPD",
      "hgvs": [
        "NM_001171993.2:c.657T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165464.1:p.Tyr219Ter",
        "hgvsWellDefined": "NP_001165464.1:p.Tyr219_Met354delinsAsnGlyGlyAlaGlyValGlnHisIleAlaLeuLysThrGluAspIleIleThrAlaIleArgHisLeuArgGluArgGlyLeuGluPheLeuSerValProSerThrTyrTyrLysGlnLeuArgGluLysLeuLysThrAlaLysIleLysValLysGluAsnIleAspAlaLeuGluGluLeuLysIleLeuValAspTyrAspGluLysGlyTyrLeuLeuGlnIlePheThrLysProValGlnAspArgProThrLeuPheLeuGluValIleGlnArgHisAsnHisGlnGlyPheGlyAlaGlyAsnPheAsnSerLeuPheLysAlaPheGluGluGluGlnAsnLeuArgGlyAsnLeuThrAsnMetGluThrAsnGlyValValProGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713408"
    }
  ],
  "type": "nucleotide"
}