{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373067712",
  "communityStandardTitle": [
    "NM_002176.4(IFNB1):c.153C>G (p.Tyr51Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.21077716G>C?assembly=hg19",
        "id": "chr9:g.21077716G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.21077717G>C?assembly=hg38",
        "id": "chr9:g.21077717G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1051922",
        "rs": 1051922
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 21077717,
          "referenceAllele": "G",
          "start": 21077716
        }
      ],
      "hgvs": [
        "NC_000009.12:g.21077717G>C",
        "CM000671.2:g.21077717G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 21077716,
          "referenceAllele": "G",
          "start": 21077715
        }
      ],
      "hgvs": [
        "NC_000009.11:g.21077716G>C",
        "CM000671.1:g.21077716G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 21067716,
          "referenceAllele": "G",
          "start": 21067715
        }
      ],
      "hgvs": [
        "NC_000009.10:g.21067716G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005434",
      "geneNCBI_id": 3456,
      "geneSymbol": "IFNB1",
      "hgvs": [
        "ENST00000380232.4:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369581.2:p.Tyr51Ter",
        "hgvsWellDefined": "ENSP00000369581.2:p.Tyr51_Asn187delinsCysLeuLysAspArgMetAsnPheAspIleProGluGluIleLysGlnLeuGlnGlnPheGlnLysGluAspAlaAlaLeuThrIleTyrGluMetLeuGlnAsnIlePheAlaIlePheArgGlnAspSerSerSerThrGlyTrpAsnGluThrIleValGluAsnLeuLeuAlaAsnValTyrHisGlnIleAsnHisLeuLysThrValLeuGluGluLysLeuGluLysGluAspPheThrArgGlyLysLeuMetSerSerLeuHisLeuLysArgTyrTyrGlyArgIleLeuHisTyrLeuLysAlaLysGluTyrSerHisCysAlaTrpThrIleValArgValGluIleLeuArgAsnPheTyrPheIleAsnArgLeuThrGlyTyrLeuArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380232.4:c.153C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002176.4:c.153C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369581.2:p.Tyr51Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002167.1:p.Tyr51Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005434",
      "geneNCBI_id": 3456,
      "geneSymbol": "IFNB1",
      "hgvs": [
        "ENST00000380232.3:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369581.2:p.Tyr51Ter",
        "hgvsWellDefined": "ENSP00000369581.2:p.Tyr51_Asn187delinsCysLeuLysAspArgMetAsnPheAspIleProGluGluIleLysGlnLeuGlnGlnPheGlnLysGluAspAlaAlaLeuThrIleTyrGluMetLeuGlnAsnIlePheAlaIlePheArgGlnAspSerSerSerThrGlyTrpAsnGluThrIleValGluAsnLeuLeuAlaAsnValTyrHisGlnIleAsnHisLeuLysThrValLeuGluGluLysLeuGluLysGluAspPheThrArgGlyLysLeuMetSerSerLeuHisLeuLysArgTyrTyrGlyArgIleLeuHisTyrLeuLysAlaLysGluTyrSerHisCysAlaTrpThrIleValArgValGluIleLeuArgAsnPheTyrPheIleAsnArgLeuThrGlyTyrLeuArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075609307",
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005434",
      "geneNCBI_id": 3456,
      "geneSymbol": "IFNB1",
      "hgvs": [
        "NM_002176.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002167.1:p.Tyr51Ter",
        "hgvsWellDefined": "NP_002167.1:p.Tyr51_Asn187delinsCysLeuLysAspArgMetAsnPheAspIleProGluGluIleLysGlnLeuGlnGlnPheGlnLysGluAspAlaAlaLeuThrIleTyrGluMetLeuGlnAsnIlePheAlaIlePheArgGlnAspSerSerSerThrGlyTrpAsnGluThrIleValGluAsnLeuLeuAlaAsnValTyrHisGlnIleAsnHisLeuLysThrValLeuGluGluLysLeuGluLysGluAspPheThrArgGlyLysLeuMetSerSerLeuHisLeuLysArgTyrTyrGlyArgIleLeuHisTyrLeuLysAlaLysGluTyrSerHisCysAlaTrpThrIleValArgValGluIleLeuArgAsnPheTyrPheIleAsnArgLeuThrGlyTyrLeuArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075609307",
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005434",
      "geneNCBI_id": 3456,
      "geneSymbol": "IFNB1",
      "hgvs": [
        "NM_002176.3:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002167.1:p.Tyr51Ter",
        "hgvsWellDefined": "NP_002167.1:p.Tyr51_Asn187delinsCysLeuLysAspArgMetAsnPheAspIleProGluGluIleLysGlnLeuGlnGlnPheGlnLysGluAspAlaAlaLeuThrIleTyrGluMetLeuGlnAsnIlePheAlaIlePheArgGlnAspSerSerSerThrGlyTrpAsnGluThrIleValGluAsnLeuLeuAlaAsnValTyrHisGlnIleAsnHisLeuLysThrValLeuGluGluLysLeuGluLysGluAspPheThrArgGlyLysLeuMetSerSerLeuHisLeuLysArgTyrTyrGlyArgIleLeuHisTyrLeuLysAlaLysGluTyrSerHisCysAlaTrpThrIleValArgValGluIleLeuArgAsnPheTyrPheIleAsnArgLeuThrGlyTyrLeuArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075609307",
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005434",
      "geneNCBI_id": 3456,
      "geneSymbol": "IFNB1",
      "hgvs": [
        "NM_002176.4:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002167.1:p.Tyr51Ter",
        "hgvsWellDefined": "NP_002167.1:p.Tyr51_Asn187delinsCysLeuLysAspArgMetAsnPheAspIleProGluGluIleLysGlnLeuGlnGlnPheGlnLysGluAspAlaAlaLeuThrIleTyrGluMetLeuGlnAsnIlePheAlaIlePheArgGlnAspSerSerSerThrGlyTrpAsnGluThrIleValGluAsnLeuLeuAlaAsnValTyrHisGlnIleAsnHisLeuLysThrValLeuGluGluLysLeuGluLysGluAspPheThrArgGlyLysLeuMetSerSerLeuHisLeuLysArgTyrTyrGlyArgIleLeuHisTyrLeuLysAlaLysGluTyrSerHisCysAlaTrpThrIleValArgValGluIleLeuArgAsnPheTyrPheIleAsnArgLeuThrGlyTyrLeuArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380232.4:c.153C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002176.4:c.153C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369581.2:p.Tyr51Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002167.1:p.Tyr51Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}