{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2412765",
  "communityStandardTitle": [
    "NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481553[alleleid]",
        "alleleId": 481553,
        "preferredName": "NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488669",
        "RCV": [
          "RCV000578484",
          "RCV001150687",
          "RCV001237857"
        ],
        "variationId": 488669
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-50232239-C-T",
        "id": "3-50232239-C-T",
        "variant": "3:50232239 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.50232239C>T?assembly=hg19",
        "id": "chr3:g.50232239C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.50194806C>T?assembly=hg38",
        "id": "chr3:g.50194806C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374913800",
        "rs": 374913800
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-50232239-C-T?dataset=gnomad_r2_1",
        "id": "3-50232239-C-T",
        "variant": "3:50232239 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-50194806-C-T?dataset=gnomad_r3",
        "id": "3-50194806-C-T",
        "variant": "3:50194806 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-50194806-C-T?dataset=gnomad_r4",
        "id": "3-50194806-C-T",
        "variant": "3:50194806 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 50194806,
          "referenceAllele": "C",
          "start": 50194805
        }
      ],
      "hgvs": [
        "NC_000003.12:g.50194806C>T",
        "CM000665.2:g.50194806C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 50232239,
          "referenceAllele": "C",
          "start": 50232238
        }
      ],
      "hgvs": [
        "NC_000003.11:g.50232239C>T",
        "CM000665.1:g.50232239C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 50207243,
          "referenceAllele": "C",
          "start": 50207242
        }
      ],
      "hgvs": [
        "NC_000003.10:g.50207243C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8197,
          "referenceAllele": "C",
          "start": 8196
        }
      ],
      "hgvs": [
        "NG_009831.1:g.8197C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001668"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "ENST00000232461.8:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000232461.3:p.Gln302Ter",
        "hgvsWellDefined": "ENSP00000232461.3:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000232461.8:c.904C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144499.3:c.904C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000232461.3:p.Gln302Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653082.1:p.Gln302Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "ENST00000232461.7:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000232461.3:p.Gln302Ter",
        "hgvsWellDefined": "ENSP00000232461.3:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "ENST00000433068.5:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387555.1:p.Gln302Ter",
        "hgvsWellDefined": "ENSP00000387555.1:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825083302",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "NM_000172.3:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000163.2:p.Gln302Ter",
        "hgvsWellDefined": "NP_000163.2:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658719765",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "NM_144499.2:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653082.1:p.Gln302Ter",
        "hgvsWellDefined": "NP_653082.1:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "XM_011533595.1:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531897.1:p.Gln254Ter",
        "hgvsWellDefined": "XP_011531897.1:p.Gln254_Phe302delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "XM_011533596.1:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531898.1:p.Gln254Ter",
        "hgvsWellDefined": "XP_011531898.1:p.Gln254_Phe302delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "C",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "XR_940416.1:n.1149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825083302",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "NM_000172.4:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000163.2:p.Gln302Ter",
        "hgvsWellDefined": "NP_000163.2:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658719765",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004393",
      "geneNCBI_id": 2779,
      "geneSymbol": "GNAT1",
      "hgvs": [
        "NM_144499.3:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653082.1:p.Gln302Ter",
        "hgvsWellDefined": "NP_653082.1:p.Gln302_Phe350delinsPheLeuGluLeuAsnMetArgArgAspValLysGluIleTyrSerHisMetThrCysAlaThrAspThrGlnAsnValLysPheValPheAspAlaValThrAspIleIleIleLysGluAsnLeuLysAspCysGlyLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000232461.8:c.904C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144499.3:c.904C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000232461.3:p.Gln302Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653082.1:p.Gln302Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}