{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8242273",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=703913[alleleid]",
        "alleleId": 703913,
        "preferredName": "NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/771092",
        "RCV": [
          "RCV003640943",
          "RCV003987746"
        ],
        "variationId": 771092
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89349081-T-C",
        "id": "16-89349081-T-C",
        "variant": "16:89349081 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89349081T>C?assembly=hg19",
        "id": "chr16:g.89349081T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89282673T>C?assembly=hg38",
        "id": "chr16:g.89282673T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764356904",
        "rs": 764356904
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89349081-T-C?dataset=gnomad_r2_1",
        "id": "16-89349081-T-C",
        "variant": "16:89349081 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89282673-T-C?dataset=gnomad_r4",
        "id": "16-89282673-T-C",
        "variant": "16:89282673 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89282673,
          "referenceAllele": "T",
          "start": 89282672
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89282673T>C",
        "CM000678.2:g.89282673T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89349081,
          "referenceAllele": "T",
          "start": 89349080
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89349081T>C",
        "CM000678.1:g.89349081T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87876582,
          "referenceAllele": "T",
          "start": 87876581
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87876582T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212889,
          "referenceAllele": "A",
          "start": 212888
        }
      ],
      "hgvs": [
        "NG_032003.1:g.212889A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212889,
          "referenceAllele": "A",
          "start": 212888
        }
      ],
      "hgvs": [
        "NG_032003.2:g.212889A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4330,
          "referenceAllele": "A",
          "start": 4329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.His1290Arg",
        "hgvsWellDefined": "ENSP00000301030.4:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.3869A>G"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.3869A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.His1290Arg"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.His1290Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4182,
          "referenceAllele": "A",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*3672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*3672A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4160,
          "referenceAllele": "A",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.His1290Arg",
        "hgvsWellDefined": "ENSP00000367581.2:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4245,
          "referenceAllele": "A",
          "start": 4244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.His1290Arg",
        "hgvsWellDefined": "ENSP00000495226.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 5855,
          "referenceAllele": "A",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 5854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+5855A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+5855A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4330,
          "referenceAllele": "A",
          "start": 4329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.His1290Arg",
        "hgvsWellDefined": "ENSP00000301030.4:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4089,
          "referenceAllele": "A",
          "start": 4088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*3672A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*3672A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4158,
          "referenceAllele": "A",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.His1290Arg",
        "hgvsWellDefined": "ENSP00000367581.2:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 5855,
          "referenceAllele": "A",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 5854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+5855A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373651",
      "coordinates": [
        {
          "allele": "G",
          "end": 4401,
          "referenceAllele": "A",
          "start": 4400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.His1290Arg",
        "hgvsWellDefined": "NP_001243111.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375497",
      "coordinates": [
        {
          "allele": "G",
          "end": 4327,
          "referenceAllele": "A",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.His1290Arg",
        "hgvsWellDefined": "NP_001243112.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916007483",
      "coordinates": [
        {
          "allele": "G",
          "end": 4330,
          "referenceAllele": "A",
          "start": 4329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.His1290Arg",
        "hgvsWellDefined": "NP_037407.4:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4107,
          "referenceAllele": "A",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.3767A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.His1256Arg",
        "hgvsWellDefined": "XP_006721244.1:p.His1256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4145,
          "referenceAllele": "A",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.3572A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.His1191Arg",
        "hgvsWellDefined": "XP_006721247.1:p.His1191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4387,
          "referenceAllele": "A",
          "start": 4386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521353.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4092,
          "referenceAllele": "A",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521354.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4525,
          "referenceAllele": "A",
          "start": 4524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521355.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4440,
          "referenceAllele": "A",
          "start": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.3767A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.His1256Arg",
        "hgvsWellDefined": "XP_011521356.1:p.His1256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4713,
          "referenceAllele": "A",
          "start": 4712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.3767A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.His1256Arg",
        "hgvsWellDefined": "XP_011521357.1:p.His1256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4462,
          "referenceAllele": "A",
          "start": 4461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.3740A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.His1247Arg",
        "hgvsWellDefined": "XP_011521358.1:p.His1247Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4342,
          "referenceAllele": "A",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521359.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4391,
          "referenceAllele": "A",
          "start": 4390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521353.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4496,
          "referenceAllele": "A",
          "start": 4495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521355.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4410,
          "referenceAllele": "A",
          "start": 4409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.3767A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.His1256Arg",
        "hgvsWellDefined": "XP_011521356.1:p.His1256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4695,
          "referenceAllele": "A",
          "start": 4694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.3767A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.His1256Arg",
        "hgvsWellDefined": "XP_011521357.1:p.His1256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4432,
          "referenceAllele": "A",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.3740A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.His1247Arg",
        "hgvsWellDefined": "XP_011521358.1:p.His1247Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4313,
          "referenceAllele": "A",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.His1290Arg",
        "hgvsWellDefined": "XP_011521359.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4877,
          "referenceAllele": "A",
          "start": 4876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.His1290Arg",
        "hgvsWellDefined": "XP_016878671.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4499,
          "referenceAllele": "A",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.His1290Arg",
        "hgvsWellDefined": "XP_016878672.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4496,
          "referenceAllele": "A",
          "start": 4495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.His1290Arg",
        "hgvsWellDefined": "XP_016878673.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4137,
          "referenceAllele": "A",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.His1290Arg",
        "hgvsWellDefined": "XP_016878674.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4873,
          "referenceAllele": "A",
          "start": 4872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.His1290Arg",
        "hgvsWellDefined": "XP_016878675.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4225,
          "referenceAllele": "A",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.His1290Arg",
        "hgvsWellDefined": "XP_016878676.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4407,
          "referenceAllele": "A",
          "start": 4406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.3767A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.His1256Arg",
        "hgvsWellDefined": "XP_024306012.1:p.His1256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916007483",
      "coordinates": [
        {
          "allele": "G",
          "end": 4330,
          "referenceAllele": "A",
          "start": 4329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.His1290Arg",
        "hgvsWellDefined": "NP_037407.4:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.3869A>G"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.3869A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.His1290Arg"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.His1290Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373651",
      "coordinates": [
        {
          "allele": "G",
          "end": 4401,
          "referenceAllele": "A",
          "start": 4400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.His1290Arg",
        "hgvsWellDefined": "NP_001243111.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375497",
      "coordinates": [
        {
          "allele": "G",
          "end": 4327,
          "referenceAllele": "A",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.3869A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.His1290Arg",
        "hgvsWellDefined": "NP_001243112.1:p.His1290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}