{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5576773",
  "communityStandardTitle": [
    "NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4428935"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415233[alleleid]",
        "alleleId": 415233,
        "preferredName": "NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426944",
        "RCV": [
          "RCV000489288",
          "RCV000634908",
          "RCV003409676"
        ],
        "variationId": 426944
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-82039949-G-A",
        "id": "10-82039949-G-A",
        "variant": "10:82039949 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.82039949G>A?assembly=hg19",
        "id": "chr10:g.82039949G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.80280193G>A?assembly=hg38",
        "id": "chr10:g.80280193G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376757912",
        "rs": 376757912
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-82039949-G-A?dataset=gnomad_r2_1",
        "id": "10-82039949-G-A",
        "variant": "10:82039949 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-80280193-G-A?dataset=gnomad_r3",
        "id": "10-80280193-G-A",
        "variant": "10:80280193 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-80280193-G-A?dataset=gnomad_r4",
        "id": "10-80280193-G-A",
        "variant": "10:80280193 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 80280193,
          "referenceAllele": "G",
          "start": 80280192
        }
      ],
      "hgvs": [
        "NC_000010.11:g.80280193G>A",
        "CM000672.2:g.80280193G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 82039949,
          "referenceAllele": "G",
          "start": 82039948
        }
      ],
      "hgvs": [
        "NC_000010.10:g.82039949G>A",
        "CM000672.1:g.82039949G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 82029929,
          "referenceAllele": "G",
          "start": 82029928
        }
      ],
      "hgvs": [
        "NC_000010.9:g.82029929G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14486,
          "referenceAllele": "C",
          "start": 14485
        }
      ],
      "hgvs": [
        "NG_008083.1:g.14486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000828"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000372213.8:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361287.3:p.Arg177Trp",
        "hgvsWellDefined": "ENSP00000361287.3:p.Arg177Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750957",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372213.8:c.529C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000429.3:c.529C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361287.3:p.Arg177Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000420.1:p.Arg177Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000372213.7:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361287.3:p.Arg177Trp",
        "hgvsWellDefined": "ENSP00000361287.3:p.Arg177Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "ENST00000455001.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414961.1:p.Arg114Trp",
        "hgvsWellDefined": "ENSP00000414961.1:p.Arg114Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466239",
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "NM_000429.2:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000420.1:p.Arg177Trp",
        "hgvsWellDefined": "NP_000420.1:p.Arg177Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "XM_005269842.3:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269899.1:p.Arg177Trp",
        "hgvsWellDefined": "XP_005269899.1:p.Arg177Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "XM_005269843.3:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269900.1:p.Arg136Trp",
        "hgvsWellDefined": "XP_005269900.1:p.Arg136Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466239",
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006903",
      "geneNCBI_id": 4143,
      "geneSymbol": "MAT1A",
      "hgvs": [
        "NM_000429.3:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000420.1:p.Arg177Trp",
        "hgvsWellDefined": "NP_000420.1:p.Arg177Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372213.8:c.529C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000429.3:c.529C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361287.3:p.Arg177Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000420.1:p.Arg177Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}