{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347866",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216052[alleleid]",
        "alleleId": 216052,
        "preferredName": "NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218991",
        "RCV": [
          "RCV000203328",
          "RCV001384466"
        ],
        "variationId": 218991
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49426881T>C?assembly=hg19",
        "id": "chr6:g.49426881T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49459168T>C?assembly=hg38",
        "id": "chr6:g.49459168T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864309735",
        "rs": 864309735
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49426881-T-C?dataset=gnomad_r2_1",
        "id": "6-49426881-T-C",
        "variant": "6:49426881 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49459168-T-C?dataset=gnomad_r4",
        "id": "6-49459168-T-C",
        "variant": "6:49459168 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49459168,
          "referenceAllele": "T",
          "start": 49459167
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49459168T>C",
        "CM000668.2:g.49459168T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49426881,
          "referenceAllele": "T",
          "start": 49426880
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49426881T>C",
        "CM000668.1:g.49426881T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 49534840,
          "referenceAllele": "T",
          "start": 49534839
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49534840T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8972,
          "referenceAllele": "A",
          "start": 8971
        }
      ],
      "hgvs": [
        "NG_007100.1:g.8972A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.299A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Tyr100Cys",
        "hgvsWellDefined": "ENSP00000274813.3:p.Tyr100Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.299A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.299A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Tyr100Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Tyr100Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.299A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Tyr100Cys",
        "hgvsWellDefined": "ENSP00000274813.3:p.Tyr100Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347867",
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "referenceAllele": "A",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.299A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Tyr100Cys",
        "hgvsWellDefined": "NP_000246.2:p.Tyr100Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "A",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.299A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Tyr100Cys",
        "hgvsWellDefined": "XP_005249200.1:p.Tyr100Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "A",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.299A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Tyr100Cys",
        "hgvsWellDefined": "XP_005249200.1:p.Tyr100Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347867",
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.299A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Tyr100Cys",
        "hgvsWellDefined": "NP_000246.2:p.Tyr100Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.299A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.299A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Tyr100Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Tyr100Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}