{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1922573554",
  "communityStandardTitle": [
    "NM_000429.3(MAT1A):c.791G= (p.Arg264=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72558181",
        "rs": 72558181
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 80275177,
          "referenceAllele": "C",
          "start": 80275176
        }
      ],
      "hgvs": [
        "NC_000010.11:g.80275177C=",
        "CM000672.2:g.80275177C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 82034933,
          "referenceAllele": "C",
          "start": 82034932
        }
      ],
      "hgvs": [
        "NC_000010.10:g.82034933C=",
        "CM000672.1:g.82034933C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 82024913,
          "referenceAllele": "C",
          "start": 82024912
        }
      ],
      "hgvs": [
        "NC_000010.9:g.82024913C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19502,
          "referenceAllele": "G",
          "start": 19501
        }
      ],
      "hgvs": [
        "NG_008083.1:g.19502G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000828"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000372213.8:c.791G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361287.3:p.Arg264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750957",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372213.8:c.791G="
          },
          "RefSeq": {
            "hgvs": "NM_000429.3:c.791G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361287.3:p.Arg264="
          },
          "RefSeq": {
            "hgvs": "NP_000420.1:p.Arg264="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000372213.7:c.791G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361287.3:p.Arg264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "G",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000480845.1:n.23G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000485270.5:n.303G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076688665",
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "NM_000429.2:c.791G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000420.1:p.Arg264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "XM_005269842.3:c.791G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269899.1:p.Arg264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "XM_005269843.3:c.668G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269900.1:p.Arg223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076688665",
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "NM_000429.3:c.791G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000420.1:p.Arg264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372213.8:c.791G="
          },
          "RefSeq": {
            "hgvs": "NM_000429.3:c.791G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361287.3:p.Arg264="
          },
          "RefSeq": {
            "hgvs": "NP_000420.1:p.Arg264="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}