{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370636411",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.685G>T (p.Glu229Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18258198G>T?assembly=hg19",
        "id": "chr8:g.18258198G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18400688G>T?assembly=hg38",
        "id": "chr8:g.18400688G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800776439",
        "rs": 1800776439
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18400688-G-T?dataset=gnomad_r3",
        "id": "8-18400688-G-T",
        "variant": "8:18400688 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18400688-G-T?dataset=gnomad_r4",
        "id": "8-18400688-G-T",
        "variant": "8:18400688 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18400688,
          "referenceAllele": "G",
          "start": 18400687
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18400688G>T",
        "CM000670.2:g.18400688G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18258198,
          "referenceAllele": "G",
          "start": 18258197
        }
      ],
      "hgvs": [
        "NC_000008.10:g.18258198G>T",
        "CM000670.1:g.18258198G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18302478,
          "referenceAllele": "G",
          "start": 18302477
        }
      ],
      "hgvs": [
        "NC_000008.9:g.18302478G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14444,
          "referenceAllele": "G",
          "start": 14443
        }
      ],
      "hgvs": [
        "NG_012246.1:g.14444G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.4:c.685G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Glu229Ter",
        "hgvsWellDefined": "ENSP00000286479.3:p.Glu229_Ile290delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.685G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.685G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Glu229Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Glu229Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.3:c.685G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Glu229Ter",
        "hgvsWellDefined": "ENSP00000286479.3:p.Glu229_Ile290delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.295G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:p.Glu99Ter",
        "hgvsWellDefined": "ENSP00000428416.1:p.Glu99_Ile160delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075291480",
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.685G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Glu229Ter",
        "hgvsWellDefined": "NP_000006.2:p.Glu229_Ile290delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.685G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Glu229Ter",
        "hgvsWellDefined": "XP_011542660.1:p.Glu229_Ile290delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.685G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Glu229Ter",
        "hgvsWellDefined": "XP_016868427.1:p.Glu229_Ile290delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075291480",
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.685G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Glu229Ter",
        "hgvsWellDefined": "NP_000006.2:p.Glu229_Ile290delinsGlyValTyrCysLeuValGlyPheIleLeuThrTyrArgLysPheAsnTyrLysAspAsnThrAspLeuValGluPheLysThrLeuThrGluGluGluValGluGluValLeuArgAsnIlePheLysIleSerLeuGlyArgAsnLeuValProLysProGlyAspGlySerLeuThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.685G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.685G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Glu229Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Glu229Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}