{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338787784",
  "communityStandardTitle": [
    "NM_000871.3(HTR6):c.267C>G (p.Tyr89Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.19992513C>G?assembly=hg19",
        "id": "chr1:g.19992513C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.19666020C>G?assembly=hg38",
        "id": "chr1:g.19666020C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805054",
        "rs": 1805054
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-19666020-C-G?dataset=gnomad_r4",
        "id": "1-19666020-C-G",
        "variant": "1:19666020 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 19666020,
          "referenceAllele": "C",
          "start": 19666019
        }
      ],
      "hgvs": [
        "NC_000001.11:g.19666020C>G",
        "CM000663.2:g.19666020C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 19992513,
          "referenceAllele": "C",
          "start": 19992512
        }
      ],
      "hgvs": [
        "NC_000001.10:g.19992513C>G",
        "CM000663.1:g.19992513C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 19865100,
          "referenceAllele": "C",
          "start": 19865099
        }
      ],
      "hgvs": [
        "NC_000001.9:g.19865100C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005301",
      "geneNCBI_id": 3362,
      "geneSymbol": "HTR6",
      "hgvs": [
        "ENST00000289753.2:c.267C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289753.1:p.Tyr89Ter",
        "hgvsWellDefined": "ENSP00000289753.1:p.Tyr89_Asn440delinsGlyArgTrpValLeuAlaArgGlyLeuCysLeuLeuTrpThrAlaPheAspValMetCysCysSerAlaSerIleLeuAsnLeuCysLeuIleSerLeuAspArgTyrLeuLeuIleLeuSerProLeuArgTyrLysLeuArgMetThrProLeuArgAlaLeuAlaLeuValLeuGlyAlaTrpSerLeuAlaAlaLeuAlaSerPheLeuProLeuLeuLeuGlyTrpHisGluLeuGlyHisAlaArgProProValProGlyGlnCysArgLeuLeuAlaSerLeuProPheValLeuValAlaSerGlyLeuThrPhePheLeuProSerGlyAlaIleCysPheThrTyrCysArgIleLeuLeuAlaAlaArgLysGlnAlaValGlnValAlaSerLeuThrThrGlyMetAlaSerGlnAlaSerGluThrLeuGlnValProArgThrProArgProGlyValGluSerAlaAspSerArgArgLeuAlaThrLysHisSerArgLysAlaLeuLysAlaSerLeuThrLeuGlyIleLeuLeuGlyMetPhePheValThrTrpLeuProPhePheValAlaAsnIleValGlnAlaValCysAspCysIleSerProGlyLeuPheAspValLeuThrTrpLeuGlyTyrCysAsnSerThrMetAsnProIleIleTyrProLeuPheMetArgAspPheLysArgAlaLeuGlyArgPheLeuProCysProArgCysProArgGluArgGlnAlaSerLeuAlaSerProSerLeuArgThrSerHisSerGlyProArgProGlyLeuSerLeuGlnGlnValLeuProLeuProLeuProProAspSerAspSerAspSerAspAlaGlySerGlyGlySerSerGlyLeuArgLeuThrAlaGlnLeuLeuLeuProGlyGluAlaThrGlnAspProProLeuProThrArgAlaAlaAlaAlaValAsnPhePheAsnIleAspProAlaGluProGluLeuArgProHisProLeuGlyIleProThrAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743991",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289753.2:c.267C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000871.3:c.267C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289753.1:p.Tyr89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000862.1:p.Tyr89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005301",
      "geneNCBI_id": 3362,
      "geneSymbol": "HTR6",
      "hgvs": [
        "ENST00000289753.1:c.267C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289753.1:p.Tyr89Ter",
        "hgvsWellDefined": "ENSP00000289753.1:p.Tyr89_Asn440delinsGlyArgTrpValLeuAlaArgGlyLeuCysLeuLeuTrpThrAlaPheAspValMetCysCysSerAlaSerIleLeuAsnLeuCysLeuIleSerLeuAspArgTyrLeuLeuIleLeuSerProLeuArgTyrLysLeuArgMetThrProLeuArgAlaLeuAlaLeuValLeuGlyAlaTrpSerLeuAlaAlaLeuAlaSerPheLeuProLeuLeuLeuGlyTrpHisGluLeuGlyHisAlaArgProProValProGlyGlnCysArgLeuLeuAlaSerLeuProPheValLeuValAlaSerGlyLeuThrPhePheLeuProSerGlyAlaIleCysPheThrTyrCysArgIleLeuLeuAlaAlaArgLysGlnAlaValGlnValAlaSerLeuThrThrGlyMetAlaSerGlnAlaSerGluThrLeuGlnValProArgThrProArgProGlyValGluSerAlaAspSerArgArgLeuAlaThrLysHisSerArgLysAlaLeuLysAlaSerLeuThrLeuGlyIleLeuLeuGlyMetPhePheValThrTrpLeuProPhePheValAlaAsnIleValGlnAlaValCysAspCysIleSerProGlyLeuPheAspValLeuThrTrpLeuGlyTyrCysAsnSerThrMetAsnProIleIleTyrProLeuPheMetArgAspPheLysArgAlaLeuGlyArgPheLeuProCysProArgCysProArgGluArgGlnAlaSerLeuAlaSerProSerLeuArgThrSerHisSerGlyProArgProGlyLeuSerLeuGlnGlnValLeuProLeuProLeuProProAspSerAspSerAspSerAspAlaGlySerGlyGlySerSerGlyLeuArgLeuThrAlaGlnLeuLeuLeuProGlyGluAlaThrGlnAspProProLeuProThrArgAlaAlaAlaAlaValAsnPhePheAsnIleAspProAlaGluProGluLeuArgProHisProLeuGlyIleProThrAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063876156",
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005301",
      "geneNCBI_id": 3362,
      "geneSymbol": "HTR6",
      "hgvs": [
        "NM_000871.2:c.267C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000862.1:p.Tyr89Ter",
        "hgvsWellDefined": "NP_000862.1:p.Tyr89_Asn440delinsGlyArgTrpValLeuAlaArgGlyLeuCysLeuLeuTrpThrAlaPheAspValMetCysCysSerAlaSerIleLeuAsnLeuCysLeuIleSerLeuAspArgTyrLeuLeuIleLeuSerProLeuArgTyrLysLeuArgMetThrProLeuArgAlaLeuAlaLeuValLeuGlyAlaTrpSerLeuAlaAlaLeuAlaSerPheLeuProLeuLeuLeuGlyTrpHisGluLeuGlyHisAlaArgProProValProGlyGlnCysArgLeuLeuAlaSerLeuProPheValLeuValAlaSerGlyLeuThrPhePheLeuProSerGlyAlaIleCysPheThrTyrCysArgIleLeuLeuAlaAlaArgLysGlnAlaValGlnValAlaSerLeuThrThrGlyMetAlaSerGlnAlaSerGluThrLeuGlnValProArgThrProArgProGlyValGluSerAlaAspSerArgArgLeuAlaThrLysHisSerArgLysAlaLeuLysAlaSerLeuThrLeuGlyIleLeuLeuGlyMetPhePheValThrTrpLeuProPhePheValAlaAsnIleValGlnAlaValCysAspCysIleSerProGlyLeuPheAspValLeuThrTrpLeuGlyTyrCysAsnSerThrMetAsnProIleIleTyrProLeuPheMetArgAspPheLysArgAlaLeuGlyArgPheLeuProCysProArgCysProArgGluArgGlnAlaSerLeuAlaSerProSerLeuArgThrSerHisSerGlyProArgProGlyLeuSerLeuGlnGlnValLeuProLeuProLeuProProAspSerAspSerAspSerAspAlaGlySerGlyGlySerSerGlyLeuArgLeuThrAlaGlnLeuLeuLeuProGlyGluAlaThrGlnAspProProLeuProThrArgAlaAlaAlaAlaValAsnPhePheAsnIleAspProAlaGluProGluLeuArgProHisProLeuGlyIleProThrAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063876156",
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005301",
      "geneNCBI_id": 3362,
      "geneSymbol": "HTR6",
      "hgvs": [
        "NM_000871.3:c.267C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000862.1:p.Tyr89Ter",
        "hgvsWellDefined": "NP_000862.1:p.Tyr89_Asn440delinsGlyArgTrpValLeuAlaArgGlyLeuCysLeuLeuTrpThrAlaPheAspValMetCysCysSerAlaSerIleLeuAsnLeuCysLeuIleSerLeuAspArgTyrLeuLeuIleLeuSerProLeuArgTyrLysLeuArgMetThrProLeuArgAlaLeuAlaLeuValLeuGlyAlaTrpSerLeuAlaAlaLeuAlaSerPheLeuProLeuLeuLeuGlyTrpHisGluLeuGlyHisAlaArgProProValProGlyGlnCysArgLeuLeuAlaSerLeuProPheValLeuValAlaSerGlyLeuThrPhePheLeuProSerGlyAlaIleCysPheThrTyrCysArgIleLeuLeuAlaAlaArgLysGlnAlaValGlnValAlaSerLeuThrThrGlyMetAlaSerGlnAlaSerGluThrLeuGlnValProArgThrProArgProGlyValGluSerAlaAspSerArgArgLeuAlaThrLysHisSerArgLysAlaLeuLysAlaSerLeuThrLeuGlyIleLeuLeuGlyMetPhePheValThrTrpLeuProPhePheValAlaAsnIleValGlnAlaValCysAspCysIleSerProGlyLeuPheAspValLeuThrTrpLeuGlyTyrCysAsnSerThrMetAsnProIleIleTyrProLeuPheMetArgAspPheLysArgAlaLeuGlyArgPheLeuProCysProArgCysProArgGluArgGlnAlaSerLeuAlaSerProSerLeuArgThrSerHisSerGlyProArgProGlyLeuSerLeuGlnGlnValLeuProLeuProLeuProProAspSerAspSerAspSerAspAlaGlySerGlyGlySerSerGlyLeuArgLeuThrAlaGlnLeuLeuLeuProGlyGluAlaThrGlnAspProProLeuProThrArgAlaAlaAlaAlaValAsnPhePheAsnIleAspProAlaGluProGluLeuArgProHisProLeuGlyIleProThrAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289753.2:c.267C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000871.3:c.267C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289753.1:p.Tyr89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000862.1:p.Tyr89Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}