{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3847025",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544057[alleleid]",
        "alleleId": 544057,
        "preferredName": "NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553762",
        "RCV": [
          "RCV000669279",
          "RCV000781609",
          "RCV001376630",
          "RCV001829855"
        ],
        "variationId": 553762
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-49423854-C-A",
        "id": "6-49423854-C-A",
        "variant": "6:49423854 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49423854C>A?assembly=hg19",
        "id": "chr6:g.49423854C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49456141C>A?assembly=hg38",
        "id": "chr6:g.49456141C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761477436",
        "rs": 761477436
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49423854-C-A?dataset=gnomad_r2_1",
        "id": "6-49423854-C-A",
        "variant": "6:49423854 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49456141-C-A?dataset=gnomad_r3",
        "id": "6-49456141-C-A",
        "variant": "6:49456141 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49456141-C-A?dataset=gnomad_r4",
        "id": "6-49456141-C-A",
        "variant": "6:49456141 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 49456141,
          "referenceAllele": "C",
          "start": 49456140
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49456141C>A",
        "CM000668.2:g.49456141C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 49423854,
          "referenceAllele": "C",
          "start": 49423853
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49423854C>A",
        "CM000668.1:g.49423854C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 49531813,
          "referenceAllele": "C",
          "start": 49531812
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49531813C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11999,
          "referenceAllele": "G",
          "start": 11998
        }
      ],
      "hgvs": [
        "NG_007100.1:g.11999G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Gly284Ter",
        "hgvsWellDefined": "ENSP00000274813.3:p.Gly284_Val750delinsLeuGluTyrSerArgThrGlyLeuGlnAlaGlyLeuThrIleAspGluPheAlaProArgLeuSerPhePheTrpGlyIleGlyMetAsnPheTyrMetGluIleAlaLysMetArgAlaGlyArgArgLeuTrpAlaHisLeuIleGluLysMetPheGlnProLysAsnSerLysSerLeuLeuLeuArgAlaHisCysGlnThrSerGlyTrpSerLeuThrGluGlnAspProTyrAsnAsnIleValArgThrAlaIleGluAlaMetAlaAlaValPheGlyGlyThrGlnSerLeuHisThrAsnSerPheAspGluAlaLeuGlyLeuProThrValLysSerAlaArgIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Gly284Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Gly284Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Gly284Ter",
        "hgvsWellDefined": "ENSP00000274813.3:p.Gly284_Val750delinsLeuGluTyrSerArgThrGlyLeuGlnAlaGlyLeuThrIleAspGluPheAlaProArgLeuSerPhePheTrpGlyIleGlyMetAsnPheTyrMetGluIleAlaLysMetArgAlaGlyArgArgLeuTrpAlaHisLeuIleGluLysMetPheGlnProLysAsnSerLysSerLeuLeuLeuArgAlaHisCysGlnThrSerGlyTrpSerLeuThrGluGlnAspProTyrAsnAsnIleValArgThrAlaIleGluAlaMetAlaAlaValPheGlyGlyThrGlnSerLeuHisThrAsnSerPheAspGluAlaLeuGlyLeuProThrValLysSerAlaArgIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827456",
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Gly284Ter",
        "hgvsWellDefined": "NP_000246.2:p.Gly284_Val750delinsLeuGluTyrSerArgThrGlyLeuGlnAlaGlyLeuThrIleAspGluPheAlaProArgLeuSerPhePheTrpGlyIleGlyMetAsnPheTyrMetGluIleAlaLysMetArgAlaGlyArgArgLeuTrpAlaHisLeuIleGluLysMetPheGlnProLysAsnSerLysSerLeuLeuLeuArgAlaHisCysGlnThrSerGlyTrpSerLeuThrGluGlnAspProTyrAsnAsnIleValArgThrAlaIleGluAlaMetAlaAlaValPheGlyGlyThrGlnSerLeuHisThrAsnSerPheAspGluAlaLeuGlyLeuProThrValLysSerAlaArgIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Gly284Ter",
        "hgvsWellDefined": "XP_005249200.1:p.Gly284_Val750delinsLeuGluTyrSerArgThrGlyLeuGlnAlaGlyLeuThrIleAspGluPheAlaProArgLeuSerPhePheTrpGlyIleGlyMetAsnPheTyrMetGluIleAlaLysMetArgAlaGlyArgArgLeuTrpAlaHisLeuIleGluLysMetPheGlnProLysAsnSerLysSerLeuLeuLeuArgAlaHisCysGlnThrSerGlyTrpSerLeuThrGluGlnAspProTyrAsnAsnIleValArgThrAlaIleGluAlaMetAlaAlaValPheGlyGlyThrGlnSerLeuHisThrAsnSerPheAspGluAlaLeuGlyLeuProThrValLysSerAlaArgIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Gly284Ter",
        "hgvsWellDefined": "XP_005249200.1:p.Gly284_Val750delinsLeuGluTyrSerArgThrGlyLeuGlnAlaGlyLeuThrIleAspGluPheAlaProArgLeuSerPhePheTrpGlyIleGlyMetAsnPheTyrMetGluIleAlaLysMetArgAlaGlyArgArgLeuTrpAlaHisLeuIleGluLysMetPheGlnProLysAsnSerLysSerLeuLeuLeuArgAlaHisCysGlnThrSerGlyTrpSerLeuThrGluGlnAspProTyrAsnAsnIleValArgThrAlaIleGluAlaMetAlaAlaValPheGlyGlyThrGlnSerLeuHisThrAsnSerPheAspGluAlaLeuGlyLeuProThrValLysSerAlaArgIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827456",
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Gly284Ter",
        "hgvsWellDefined": "NP_000246.2:p.Gly284_Val750delinsLeuGluTyrSerArgThrGlyLeuGlnAlaGlyLeuThrIleAspGluPheAlaProArgLeuSerPhePheTrpGlyIleGlyMetAsnPheTyrMetGluIleAlaLysMetArgAlaGlyArgArgLeuTrpAlaHisLeuIleGluLysMetPheGlnProLysAsnSerLysSerLeuLeuLeuArgAlaHisCysGlnThrSerGlyTrpSerLeuThrGluGlnAspProTyrAsnAsnIleValArgThrAlaIleGluAlaMetAlaAlaValPheGlyGlyThrGlnSerLeuHisThrAsnSerPheAspGluAlaLeuGlyLeuProThrValLysSerAlaArgIleAlaArgAsnThrGlnIleIleIleGlnGluGluSerGlyIleProLysValAlaAspProTrpGlyGlySerTyrMetMetGluCysLeuThrAsnAspValTyrAspAlaAlaLeuLysLeuIleAsnGluIleGluGluMetGlyGlyMetAlaLysAlaValAlaGluGlyIleProLysLeuArgIleGluGluCysAlaAlaArgArgGlnAlaArgIleAspSerGlySerGluValIleValGlyValAsnLysTyrGlnLeuGluLysGluAspAlaValGluValLeuAlaIleAspAsnThrSerValArgAsnArgGlnIleGluLysLeuLysLysIleLysSerSerArgAspGlnAlaLeuAlaGluArgCysLeuAlaAlaLeuThrGluCysAlaAlaSerGlyAspGlyAsnIleLeuAlaLeuAlaValAspAlaSerArgAlaArgCysThrValGlyGluIleThrAspAlaLeuLysLysValPheGlyGluHisLysAlaAsnAspArgMetValSerGlyAlaTyrArgGlnGluPheGlyGluSerLysGluIleThrSerAlaIleLysArgValHisLysPheMetGluArgGluGlyArgArgProArgLeuLeuValAlaLysMetGlyGlnAspGlyHisAspArgGlyAlaLysValIleAlaThrGlyPheAlaAspLeuGlyPheAspValAspIleGlyProLeuPheGlnThrProArgGluValAlaGlnGlnAlaValAspAlaAspValHisAlaValGlyIleSerThrLeuAlaAlaGlyHisLysThrLeuValProGluLeuIleLysGluLeuAsnSerLeuGlyArgProAspIleLeuValMetCysGlyGlyValIleProProGlnAspTyrGluPheLeuPheGluValGlyValSerAsnValPheGlyProGlyThrArgIleProLysAlaAlaValGlnValLeuAspAspIleGluLysCysLeuGluLysLysGlnGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Gly284Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Gly284Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}