{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312771",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200108[alleleid]",
        "alleleId": 200108,
        "preferredName": "NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203851",
        "RCV": [
          "RCV000186051"
        ],
        "variationId": 203851
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49407990T>C?assembly=hg19",
        "id": "chr6:g.49407990T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49440277T>C?assembly=hg38",
        "id": "chr6:g.49440277T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052004",
        "rs": 796052004
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49440277,
          "referenceAllele": "T",
          "start": 49440276
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49440277T>C",
        "CM000668.2:g.49440277T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49407990,
          "referenceAllele": "T",
          "start": 49407989
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49407990T>C",
        "CM000668.1:g.49407990T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49515949,
          "referenceAllele": "T",
          "start": 49515948
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49515949T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27863,
          "referenceAllele": "A",
          "start": 27862
        }
      ],
      "hgvs": [
        "NG_007100.1:g.27863A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2075,
          "referenceAllele": "A",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Arg629Gly",
        "hgvsWellDefined": "ENSP00000274813.3:p.Arg629Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.1885A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.1885A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Arg629Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Arg629Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Arg629Gly",
        "hgvsWellDefined": "ENSP00000274813.3:p.Arg629Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312772",
      "coordinates": [
        {
          "allele": "G",
          "end": 2150,
          "referenceAllele": "A",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Arg629Gly",
        "hgvsWellDefined": "NP_000246.2:p.Arg629Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Arg629Gly",
        "hgvsWellDefined": "XP_005249200.1:p.Arg629Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Arg629Gly",
        "hgvsWellDefined": "XP_005249200.1:p.Arg629Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312772",
      "coordinates": [
        {
          "allele": "G",
          "end": 2075,
          "referenceAllele": "A",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.1885A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Arg629Gly",
        "hgvsWellDefined": "NP_000246.2:p.Arg629Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.1885A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.1885A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Arg629Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Arg629Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}