{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA234287",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4655387",
        "active": true,
        "id": "COSM4655387"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177367[alleleid]",
        "alleleId": 177367,
        "preferredName": "NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167310",
        "RCV": [
          "RCV000179277",
          "RCV000790701",
          "RCV001193927",
          "RCV001271707"
        ],
        "variationId": 167310
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-49419304-G-A",
        "id": "6-49419304-G-A",
        "variant": "6:49419304 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49419304G>A?assembly=hg19",
        "id": "chr6:g.49419304G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49451591G>A?assembly=hg38",
        "id": "chr6:g.49451591G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504020",
        "rs": 727504020
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49419304-G-A?dataset=gnomad_r2_1",
        "id": "6-49419304-G-A",
        "variant": "6:49419304 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49451591-G-A?dataset=gnomad_r3",
        "id": "6-49451591-G-A",
        "variant": "6:49451591 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49451591-G-A?dataset=gnomad_r4",
        "id": "6-49451591-G-A",
        "variant": "6:49451591 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 49451591,
          "referenceAllele": "G",
          "start": 49451590
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49451591G>A",
        "CM000668.2:g.49451591G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 49419304,
          "referenceAllele": "G",
          "start": 49419303
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49419304G>A",
        "CM000668.1:g.49419304G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 49527263,
          "referenceAllele": "G",
          "start": 49527262
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49527263G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16549,
          "referenceAllele": "C",
          "start": 16548
        }
      ],
      "hgvs": [
        "NG_007100.1:g.16549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Arg403Ter",
        "hgvsWellDefined": "ENSP00000274813.3:p.Arg403_Val750delinsIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.1207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.1207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Arg403Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Arg403Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Arg403Ter",
        "hgvsWellDefined": "ENSP00000274813.3:p.Arg403_Val750delinsIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234288",
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Arg403Ter",
        "hgvsWellDefined": "NP_000246.2:p.Arg403_Val750delinsIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Arg403Ter",
        "hgvsWellDefined": "XP_005249200.1:p.Arg403_Val750delinsIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Arg403Ter",
        "hgvsWellDefined": "XP_005249200.1:p.Arg403_Val750delinsIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234288",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Arg403Ter",
        "hgvsWellDefined": "NP_000246.2:p.Arg403_Val750delinsIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.1207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.1207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Arg403Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Arg403Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}