{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402720522",
  "communityStandardTitle": [
    "NM_005912.3(MC4R):c.105C>G (p.Tyr35Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.58039478G>C?assembly=hg19",
        "id": "chr18:g.58039478G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.60372245G>C?assembly=hg38",
        "id": "chr18:g.60372245G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13447324",
        "rs": 13447324
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 60372245,
          "referenceAllele": "G",
          "start": 60372244
        }
      ],
      "hgvs": [
        "NC_000018.10:g.60372245G>C",
        "CM000680.2:g.60372245G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 58039478,
          "referenceAllele": "G",
          "start": 58039477
        }
      ],
      "hgvs": [
        "NC_000018.9:g.58039478G>C",
        "CM000680.1:g.58039478G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 56190458,
          "referenceAllele": "G",
          "start": 56190457
        }
      ],
      "hgvs": [
        "NC_000018.8:g.56190458G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5524,
          "referenceAllele": "C",
          "start": 5523
        }
      ],
      "hgvs": [
        "NG_016441.1:g.5524C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003190"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "ENST00000299766.5:c.105C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299766.3:p.Tyr35Ter",
        "hgvsWellDefined": "ENSP00000299766.3:p.Tyr35_Tyr332delinsSerAspGlyGlyCysTyrGluGlnLeuPheValSerProGluValPheValThrLeuGlyValIleSerLeuLeuGluAsnIleLeuValIleValAlaIleAlaLysAsnLysAsnLeuHisSerProMetTyrPhePheIleCysSerLeuAlaValAlaAspMetLeuValSerValSerAsnGlySerGluThrIleValIleThrLeuLeuAsnSerThrAspThrAspAlaGlnSerPheThrValAsnIleAspAsnValIleAspSerValIleCysSerSerLeuLeuAlaSerIleCysSerLeuLeuSerIleAlaValAspArgTyrPheThrIlePheTyrAlaLeuGlnTyrHisAsnIleMetThrValLysArgValGlyIleIleIleSerCysIleTrpAlaAlaCysThrValSerGlyIleLeuPheIleIleTyrSerAspSerSerAlaValIleIleCysLeuIleThrMetPhePheThrMetLeuAlaLeuMetAlaSerLeuTyrValHisMetPheLeuMetAlaArgLeuHisIleLysArgIleAlaValLeuProGlyThrGlyAlaIleArgGlnGlyAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuIleGlyValPheValValCysTrpAlaProPhePheLeuHisLeuIlePheTyrIleSerCysProGlnAsnProTyrCysValCysPheMetSerHisPheAsnLeuTyrLeuIleLeuIleMetCysAsnSerIleIleAspProLeuIleTyrAlaLeuArgSerGlnGluLeuArgLysThrPheLysGluIleIleCysCysTyrProLeuGlyGlyLeuCysAspLeuSerSerArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299766.5:c.105C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005912.3:c.105C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299766.3:p.Tyr35Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005903.2:p.Tyr35Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "ENST00000299766.4:c.105C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299766.3:p.Tyr35Ter",
        "hgvsWellDefined": "ENSP00000299766.3:p.Tyr35_Tyr332delinsSerAspGlyGlyCysTyrGluGlnLeuPheValSerProGluValPheValThrLeuGlyValIleSerLeuLeuGluAsnIleLeuValIleValAlaIleAlaLysAsnLysAsnLeuHisSerProMetTyrPhePheIleCysSerLeuAlaValAlaAspMetLeuValSerValSerAsnGlySerGluThrIleValIleThrLeuLeuAsnSerThrAspThrAspAlaGlnSerPheThrValAsnIleAspAsnValIleAspSerValIleCysSerSerLeuLeuAlaSerIleCysSerLeuLeuSerIleAlaValAspArgTyrPheThrIlePheTyrAlaLeuGlnTyrHisAsnIleMetThrValLysArgValGlyIleIleIleSerCysIleTrpAlaAlaCysThrValSerGlyIleLeuPheIleIleTyrSerAspSerSerAlaValIleIleCysLeuIleThrMetPhePheThrMetLeuAlaLeuMetAlaSerLeuTyrValHisMetPheLeuMetAlaArgLeuHisIleLysArgIleAlaValLeuProGlyThrGlyAlaIleArgGlnGlyAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuIleGlyValPheValValCysTrpAlaProPhePheLeuHisLeuIlePheTyrIleSerCysProGlnAsnProTyrCysValCysPheMetSerHisPheAsnLeuTyrLeuIleLeuIleMetCysAsnSerIleIleAspProLeuIleTyrAlaLeuArgSerGlnGluLeuArgLysThrPheLysGluIleIleCysCysTyrProLeuGlyGlyLeuCysAspLeuSerSerArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214752",
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "NM_005912.2:c.105C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005903.2:p.Tyr35Ter",
        "hgvsWellDefined": "NP_005903.2:p.Tyr35_Tyr332delinsSerAspGlyGlyCysTyrGluGlnLeuPheValSerProGluValPheValThrLeuGlyValIleSerLeuLeuGluAsnIleLeuValIleValAlaIleAlaLysAsnLysAsnLeuHisSerProMetTyrPhePheIleCysSerLeuAlaValAlaAspMetLeuValSerValSerAsnGlySerGluThrIleValIleThrLeuLeuAsnSerThrAspThrAspAlaGlnSerPheThrValAsnIleAspAsnValIleAspSerValIleCysSerSerLeuLeuAlaSerIleCysSerLeuLeuSerIleAlaValAspArgTyrPheThrIlePheTyrAlaLeuGlnTyrHisAsnIleMetThrValLysArgValGlyIleIleIleSerCysIleTrpAlaAlaCysThrValSerGlyIleLeuPheIleIleTyrSerAspSerSerAlaValIleIleCysLeuIleThrMetPhePheThrMetLeuAlaLeuMetAlaSerLeuTyrValHisMetPheLeuMetAlaArgLeuHisIleLysArgIleAlaValLeuProGlyThrGlyAlaIleArgGlnGlyAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuIleGlyValPheValValCysTrpAlaProPhePheLeuHisLeuIlePheTyrIleSerCysProGlnAsnProTyrCysValCysPheMetSerHisPheAsnLeuTyrLeuIleLeuIleMetCysAsnSerIleIleAspProLeuIleTyrAlaLeuArgSerGlnGluLeuArgLysThrPheLysGluIleIleCysCysTyrProLeuGlyGlyLeuCysAspLeuSerSerArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214752",
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "NM_005912.3:c.105C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005903.2:p.Tyr35Ter",
        "hgvsWellDefined": "NP_005903.2:p.Tyr35_Tyr332delinsSerAspGlyGlyCysTyrGluGlnLeuPheValSerProGluValPheValThrLeuGlyValIleSerLeuLeuGluAsnIleLeuValIleValAlaIleAlaLysAsnLysAsnLeuHisSerProMetTyrPhePheIleCysSerLeuAlaValAlaAspMetLeuValSerValSerAsnGlySerGluThrIleValIleThrLeuLeuAsnSerThrAspThrAspAlaGlnSerPheThrValAsnIleAspAsnValIleAspSerValIleCysSerSerLeuLeuAlaSerIleCysSerLeuLeuSerIleAlaValAspArgTyrPheThrIlePheTyrAlaLeuGlnTyrHisAsnIleMetThrValLysArgValGlyIleIleIleSerCysIleTrpAlaAlaCysThrValSerGlyIleLeuPheIleIleTyrSerAspSerSerAlaValIleIleCysLeuIleThrMetPhePheThrMetLeuAlaLeuMetAlaSerLeuTyrValHisMetPheLeuMetAlaArgLeuHisIleLysArgIleAlaValLeuProGlyThrGlyAlaIleArgGlnGlyAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuIleGlyValPheValValCysTrpAlaProPhePheLeuHisLeuIlePheTyrIleSerCysProGlnAsnProTyrCysValCysPheMetSerHisPheAsnLeuTyrLeuIleLeuIleMetCysAsnSerIleIleAspProLeuIleTyrAlaLeuArgSerGlnGluLeuArgLysThrPheLysGluIleIleCysCysTyrProLeuGlyGlyLeuCysAspLeuSerSerArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299766.5:c.105C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005912.3:c.105C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299766.3:p.Tyr35Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005903.2:p.Tyr35Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}