{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5160791",
  "communityStandardTitle": [
    "NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3982639",
        "active": true,
        "id": "COSM3982639"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253251[alleleid]",
        "alleleId": 253251,
        "preferredName": "NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257518",
        "RCV": [
          "RCV000246129",
          "RCV000379275",
          "RCV001553898",
          "RCV001711676"
        ],
        "variationId": 257518
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-104133628-C-T",
        "id": "9-104133628-C-T",
        "variant": "9:104133628 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104133628C>T?assembly=hg19",
        "id": "chr9:g.104133628C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101371346C>T?assembly=hg38",
        "id": "chr9:g.101371346C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1572983",
        "rs": 1572983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104133628-C-T?dataset=gnomad_r2_1",
        "id": "9-104133628-C-T",
        "variant": "9:104133628 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101371346-C-T?dataset=gnomad_r3",
        "id": "9-101371346-C-T",
        "variant": "9:101371346 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101371346-C-T?dataset=gnomad_r4",
        "id": "9-101371346-C-T",
        "variant": "9:101371346 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 101371346,
          "referenceAllele": "C",
          "start": 101371345
        }
      ],
      "hgvs": [
        "NC_000009.12:g.101371346C>T",
        "CM000671.2:g.101371346C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 104133628,
          "referenceAllele": "C",
          "start": 104133627
        }
      ],
      "hgvs": [
        "NC_000009.11:g.104133628C>T",
        "CM000671.1:g.104133628C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 103173449,
          "referenceAllele": "C",
          "start": 103173448
        }
      ],
      "hgvs": [
        "NC_000009.10:g.103173449C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18660,
          "referenceAllele": "G",
          "start": 18659
        }
      ],
      "hgvs": [
        "NG_009774.1:g.18660G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000259407.7:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259407.2:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000259407.2:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741976",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259407.7:c.59G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001701.4:c.59G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259407.2:p.Arg20Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001692.1:p.Arg20Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000395051.4:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378491.3:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000378491.3:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000674556.1:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501610.1:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000501610.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000674791.1:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501644.1:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000501644.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000674909.1:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502812.1:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000502812.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000259407.6:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259407.2:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000259407.2:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "ENST00000395051.3:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378491.3:p.Arg20Gln",
        "hgvsWellDefined": "ENSP00000378491.3:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825645831",
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "NM_001127610.1:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121082.1:p.Arg20Gln",
        "hgvsWellDefined": "NP_001121082.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438680",
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "NM_001701.3:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001692.1:p.Arg20Gln",
        "hgvsWellDefined": "NP_001692.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825645831",
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "NM_001127610.2:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121082.1:p.Arg20Gln",
        "hgvsWellDefined": "NP_001121082.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538697",
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "NM_001374715.1:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361644.1:p.Arg20Gln",
        "hgvsWellDefined": "NP_001361644.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438680",
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000932",
      "geneNCBI_id": 570,
      "geneSymbol": "BAAT",
      "hgvs": [
        "NM_001701.4:c.59G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001692.1:p.Arg20Gln",
        "hgvsWellDefined": "NP_001692.1:p.Arg20Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259407.7:c.59G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001701.4:c.59G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259407.2:p.Arg20Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001692.1:p.Arg20Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}