{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA369566073",
  "communityStandardTitle": [
    "NM_176817.5(TAS2R38):c.142C>T (p.Gln48Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.141673348G>A?assembly=hg19",
        "id": "chr7:g.141673348G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.141973548G>A?assembly=hg38",
        "id": "chr7:g.141973548G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2485583149",
        "rs": 2485583149
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-141973548-G-A?dataset=gnomad_r4",
        "id": "7-141973548-G-A",
        "variant": "7:141973548 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 141973548,
          "referenceAllele": "G",
          "start": 141973547
        }
      ],
      "hgvs": [
        "NC_000007.14:g.141973548G>A",
        "CM000669.2:g.141973548G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 141673348,
          "referenceAllele": "G",
          "start": 141673347
        }
      ],
      "hgvs": [
        "NC_000007.13:g.141673348G>A",
        "CM000669.1:g.141673348G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 141319817,
          "referenceAllele": "G",
          "start": 141319816
        }
      ],
      "hgvs": [
        "NC_000007.12:g.141319817G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5226,
          "referenceAllele": "C",
          "start": 5225
        }
      ],
      "hgvs": [
        "NG_016141.1:g.5226C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002974"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "endIntronDirection": "+",
          "endIntronOffset": 27551,
          "referenceAllele": "G",
          "start": 233,
          "startIntronDirection": "+",
          "startIntronOffset": 27550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007043",
      "geneNCBI_id": 8972,
      "geneSymbol": "MGAM",
      "hgvs": [
        "ENST00000465654.5:c.-3+27551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419372.1:n.-3+27551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009584",
      "geneNCBI_id": 5726,
      "geneSymbol": "TAS2R38",
      "hgvs": [
        "ENST00000547270.1:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448219.1:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000448219.1:p.Gln48_Cys333delinsAlaLeuSerAsnSerAspCysValLeuLeuCysLeuSerIleSerArgLeuPheLeuHisGlyLeuLeuPheLeuSerAlaIleGlnLeuThrHisPheGlnLysLeuSerGluProLeuAsnHisSerTyrGlnAlaIleIleMetLeuTrpMetIleAlaAsnGlnAlaAsnLeuTrpLeuAlaAlaCysLeuSerLeuLeuTyrCysSerLysLeuIleArgPheSerHisThrPheLeuIleCysLeuAlaSerTrpValSerArgLysIleSerGlnMetLeuLeuGlyIleIleLeuCysSerCysIleCysThrValLeuCysValTrpCysPhePheSerArgProHisPheThrValThrThrValLeuPheMetAsnAsnAsnThrArgLeuAsnTrpGlnIleLysAspLeuAsnLeuPheTyrSerPheLeuPheCysTyrLeuTrpSerValProProPheLeuLeuPheLeuValSerSerGlyMetLeuThrValSerLeuGlyArgHisMetArgThrMetLysValTyrThrArgAsnSerArgAspProSerLeuGluAlaHisIleLysAlaLeuLysSerLeuValSerPhePheCysPhePheValIleSerSerCysAlaAlaPheIleSerValProLeuLeuIleLeuTrpArgAspLysIleGlyValMetValCysValGlyIleMetAlaAlaCysProSerGlyHisAlaAlaIleLeuIleSerGlyAsnAlaLysLeuArgArgAlaValMetThrIleLeuLeuTrpAlaGlnSerSerLeuLysValArgAlaAspHisLysAlaAspSerArgThrLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000547270.1:c.142C>T"
          },
          "RefSeq": {
            "hgvs": "NM_176817.5:c.142C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448219.1:p.Gln48Ter"
          },
          "RefSeq": {
            "hgvs": "NP_789787.5:p.Gln48Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009584",
      "geneNCBI_id": 5726,
      "geneSymbol": "TAS2R38",
      "hgvs": [
        "NM_176817.4:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_789787.4:p.Gln48Ter",
        "hgvsWellDefined": "NP_789787.4:p.Gln48_Cys333delinsAlaLeuSerAsnSerAspCysValLeuLeuCysLeuSerIleSerArgLeuPheLeuHisGlyLeuLeuPheLeuSerAlaIleGlnLeuThrHisPheGlnLysLeuSerGluProLeuAsnHisSerTyrGlnAlaIleIleMetLeuTrpMetIleAlaAsnGlnAlaAsnLeuTrpLeuAlaAlaCysLeuSerLeuLeuTyrCysSerLysLeuIleArgPheSerHisThrPheLeuIleCysLeuAlaSerTrpValSerArgLysIleSerGlnMetLeuLeuGlyIleIleLeuCysSerCysIleCysThrValLeuCysValTrpCysPhePheSerArgProHisPheThrValThrThrValLeuPheMetAsnAsnAsnThrArgLeuAsnTrpGlnIleLysAspLeuAsnLeuPheTyrSerPheLeuPheCysTyrLeuTrpSerValProProPheLeuLeuPheLeuValSerSerGlyMetLeuThrValSerLeuGlyArgHisMetArgThrMetLysValTyrThrArgAsnSerArgAspProSerLeuGluAlaHisIleLysAlaLeuLysSerLeuValSerPhePheCysPhePheValIleSerSerCysValAlaPheIleSerValProLeuLeuIleLeuTrpArgAspLysIleGlyValMetValCysValGlyIleMetAlaAlaCysProSerGlyHisAlaAlaIleLeuIleSerGlyAsnAlaLysLeuArgArgAlaValMetThrIleLeuLeuTrpAlaGlnSerSerLeuLysValArgAlaAspHisLysAlaAspSerArgThrLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "endIntronDirection": "-",
          "endIntronOffset": 12847,
          "referenceAllele": "G",
          "start": 1474,
          "startIntronDirection": "-",
          "startIntronOffset": 12848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015095",
      "geneNCBI_id": 130075,
      "geneSymbol": "OR9A4",
      "hgvs": [
        "XM_011515783.1:c.*25-12848G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514085.1:n.*25-12848G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082994"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074504913",
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009584",
      "geneNCBI_id": 5726,
      "geneSymbol": "TAS2R38",
      "hgvs": [
        "NM_176817.5:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_789787.5:p.Gln48Ter",
        "hgvsWellDefined": "NP_789787.5:p.Gln48_Cys333delinsAlaLeuSerAsnSerAspCysValLeuLeuCysLeuSerIleSerArgLeuPheLeuHisGlyLeuLeuPheLeuSerAlaIleGlnLeuThrHisPheGlnLysLeuSerGluProLeuAsnHisSerTyrGlnAlaIleIleMetLeuTrpMetIleAlaAsnGlnAlaAsnLeuTrpLeuAlaAlaCysLeuSerLeuLeuTyrCysSerLysLeuIleArgPheSerHisThrPheLeuIleCysLeuAlaSerTrpValSerArgLysIleSerGlnMetLeuLeuGlyIleIleLeuCysSerCysIleCysThrValLeuCysValTrpCysPhePheSerArgProHisPheThrValThrThrValLeuPheMetAsnAsnAsnThrArgLeuAsnTrpGlnIleLysAspLeuAsnLeuPheTyrSerPheLeuPheCysTyrLeuTrpSerValProProPheLeuLeuPheLeuValSerSerGlyMetLeuThrValSerLeuGlyArgHisMetArgThrMetLysValTyrThrArgAsnSerArgAspProSerLeuGluAlaHisIleLysAlaLeuLysSerLeuValSerPhePheCysPhePheValIleSerSerCysAlaAlaPheIleSerValProLeuLeuIleLeuTrpArgAspLysIleGlyValMetValCysValGlyIleMetAlaAlaCysProSerGlyHisAlaAlaIleLeuIleSerGlyAsnAlaLysLeuArgArgAlaValMetThrIleLeuLeuTrpAlaGlnSerSerLeuLysValArgAlaAspHisLysAlaAspSerArgThrLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000547270.1:c.142C>T"
          },
          "RefSeq": {
            "hgvs": "NM_176817.5:c.142C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448219.1:p.Gln48Ter"
          },
          "RefSeq": {
            "hgvs": "NP_789787.5:p.Gln48Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}