{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392522261",
  "communityStandardTitle": [
    "NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679023[alleleid]",
        "alleleId": 1679023,
        "preferredName": "NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686909",
        "RCV": [
          "RCV002248385"
        ],
        "variationId": 1686909
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.52671920G>A?assembly=hg19",
        "id": "chr15:g.52671920G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.52379723G>A?assembly=hg38",
        "id": "chr15:g.52379723G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2141121140",
        "rs": 2141121140
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 52379723,
          "referenceAllele": "G",
          "start": 52379722
        }
      ],
      "hgvs": [
        "NC_000015.10:g.52379723G>A",
        "CM000677.2:g.52379723G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 52671920,
          "referenceAllele": "G",
          "start": 52671919
        }
      ],
      "hgvs": [
        "NC_000015.9:g.52671920G>A",
        "CM000677.1:g.52671920G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 50459212,
          "referenceAllele": "G",
          "start": 50459211
        }
      ],
      "hgvs": [
        "NC_000015.8:g.50459212G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154328,
          "referenceAllele": "C",
          "start": 154327
        }
      ],
      "hgvs": [
        "NG_009887.1:g.154328C>T",
        "LRG_86:g.154328C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001683"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000356338.11:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348693.7:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000399231.8:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382177.3:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000553916.6:c.2002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451109.2:p.Gln668Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000556196.6:c.*1794C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451178.1:n.*1794C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2418,
          "referenceAllele": "C",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000685053.1:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510081.1:p.Gln704Ter",
        "hgvsWellDefined": "ENSP00000510081.1:p.Gln704_Phe1317delinsGluPhePheSerArgTyrArgValLeuMetLysGlnLysAspValLeuSerAspArgLysGlnThrCysLysAsnValLeuGluLysLeuIleLeuAspLysAspLysTyrGlnPheGlyLysThrLysIlePhePheArgAlaGlyGlnValAlaTyrLeuGluLysLeuArgAlaAspLysLeuArgAlaAlaCysIleArgIleGlnLysThrIleArgGlyTrpLeuLeuArgLysLysTyrLeuArgMetArgLysAlaAlaIleThrMetGlnArgTyrValArgGlyTyrGlnAlaArgCysTyrAlaLysPheLeuArgArgThrLysAlaAlaThrIleIleGlnLysTyrTrpArgMetTyrValValArgArgArgTyrLysIleArgArgAlaAlaThrIleValLeuGlnSerTyrLeuArgGlyPheLeuAlaArgAsnArgTyrArgLysIleLeuArgGluHisLysAlaValIleIleGlnLysArgValArgGlyTrpLeuAlaArgThrHisTyrLysArgSerMetHisAlaIleIleTyrLeuGlnCysCysPheArgArgMetMetAlaLysArgGluLeuLysLysLeuLysIleGluAlaArgSerValGluArgTyrLysLysLeuHisIleGlyMetGluAsnLysIleMetGlnLeuGlnArgLysValAspGluGlnAsnLysAspTyrLysCysLeuValGluLysLeuThrAsnLeuGluGlyIleTyrAsnSerGluThrGluLysLeuArgSerAspLeuGluArgLeuGlnLeuSerGluGluGluAlaLysValAlaThrGlyArgValLeuSerLeuGlnGluGluIleAlaLysLeuArgLysAspLeuGluGlnThrArgSerGluLysLysCysIleGluGluHisAlaAspArgTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysValIleIleProPhePhePhePheSerLysTyrPheTyrLeuIleLeuThrLeuValTyrLysTyrProProIleLysAlaIleAspAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "referenceAllele": "C",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000687574.1:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510312.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000687748.1:c.2331C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509068.1:n.2331C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000688010.1:n.1858C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000688792.1:n.253C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000689601.1:n.1134C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "C",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000692324.1:c.98C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000692556.1:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510378.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000399233.7:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382179.4:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399233.7:c.2110C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001382347.1:c.2110C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382179.4:p.Gln704Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001369276.1:p.Gln704Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000356338.10:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348693.6:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000358212.10:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350945.7:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000399231.7:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382177.3:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000399233.6:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382179.3:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000553916.5:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451109.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000556196.5:c.*1794C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451178.1:n.*1794C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "ENST00000613858.4:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481420.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NM_000259.3:c.2110C>T",
        "LRG_86t1:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000250.3:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NM_001142495.1:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135967.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "C",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_005254397.2:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254454.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_005254398.3:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254455.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521606.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519908.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521607.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519909.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521608.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519910.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521609.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519911.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521610.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519912.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521611.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519913.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521612.1:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519914.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "C",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_005254397.4:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254454.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2189,
          "referenceAllele": "C",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521606.2:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519908.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2189,
          "referenceAllele": "C",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521607.3:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519909.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521608.3:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519910.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521609.3:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519911.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2189,
          "referenceAllele": "C",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521610.3:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519912.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521611.3:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519913.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_011521612.3:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519914.2:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "XM_017022227.2:c.2074C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877716.1:p.Gln692Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NM_001142495.2:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135967.2:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NM_001382347.1:c.2110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369276.1:p.Gln704Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399233.7:c.2110C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001382347.1:c.2110C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382179.4:p.Gln704Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001369276.1:p.Gln704Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NM_001382348.1:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369277.1:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NM_001382349.1:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369278.1:p.Gln728Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722297"
    }
  ],
  "type": "nucleotide"
}