{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347886",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216053[alleleid]",
        "alleleId": 216053,
        "preferredName": "NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218985",
        "RCV": [
          "RCV000203360"
        ],
        "variationId": 218985
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49426896G>C?assembly=hg19",
        "id": "chr6:g.49426896G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49459183G>C?assembly=hg38",
        "id": "chr6:g.49459183G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190834116",
        "rs": 190834116
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49459183,
          "referenceAllele": "G",
          "start": 49459182
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49459183G>C",
        "CM000668.2:g.49459183G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49426896,
          "referenceAllele": "G",
          "start": 49426895
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49426896G>C",
        "CM000668.1:g.49426896G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49534855,
          "referenceAllele": "G",
          "start": 49534854
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49534855G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8957,
          "referenceAllele": "C",
          "start": 8956
        }
      ],
      "hgvs": [
        "NG_007100.1:g.8957C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Pro95Arg",
        "hgvsWellDefined": "ENSP00000274813.3:p.Pro95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.284C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.284C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Pro95Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Pro95Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Pro95Arg",
        "hgvsWellDefined": "ENSP00000274813.3:p.Pro95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096529",
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Pro95Arg",
        "hgvsWellDefined": "NP_000246.2:p.Pro95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Pro95Arg",
        "hgvsWellDefined": "XP_005249200.1:p.Pro95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Pro95Arg",
        "hgvsWellDefined": "XP_005249200.1:p.Pro95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096529",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.284C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Pro95Arg",
        "hgvsWellDefined": "NP_000246.2:p.Pro95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.284C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.284C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Pro95Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Pro95Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}