{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144435",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71403[alleleid]",
        "alleleId": 71403,
        "preferredName": "NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56764",
        "RCV": [
          "RCV000050177",
          "RCV000430117",
          "RCV001804788",
          "RCV001853069"
        ],
        "variationId": 56764
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-94798481-G-A",
        "id": "8-94798481-G-A",
        "variant": "8:94798481 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94798481G>A?assembly=hg19",
        "id": "chr8:g.94798481G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93786253G>A?assembly=hg38",
        "id": "chr8:g.93786253G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386834182",
        "rs": 386834182
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94798481-G-A?dataset=gnomad_r2_1",
        "id": "8-94798481-G-A",
        "variant": "8:94798481 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93786253-G-A?dataset=gnomad_r3",
        "id": "8-93786253-G-A",
        "variant": "8:93786253 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93786253-G-A?dataset=gnomad_r4",
        "id": "8-93786253-G-A",
        "variant": "8:93786253 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 93786253,
          "referenceAllele": "G",
          "start": 93786252
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93786253G>A",
        "CM000670.2:g.93786253G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 94798481,
          "referenceAllele": "G",
          "start": 94798480
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94798481G>A",
        "CM000670.1:g.94798481G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 94867657,
          "referenceAllele": "G",
          "start": 94867656
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94867657G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36410,
          "referenceAllele": "G",
          "start": 36409
        }
      ],
      "hgvs": [
        "NG_009190.1:g.36410G>A",
        "LRG_688:g.36410G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000314488.4:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "G",
          "start": 1304,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.1289-15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:n.1289-15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000388671.2:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Arg146Gln",
        "hgvsWellDefined": "ENSP00000403035.2:p.Arg146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000428785.2:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000430740.2:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Arg146Gln",
        "hgvsWellDefined": "ENSP00000508390.1:p.Arg146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.1092G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:n.1092G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.*893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.*893G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000507627.1:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682744.1:n.857G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.1142G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:n.808G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3369,
          "referenceAllele": "G",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.3369G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.980G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Arg327Gln",
        "hgvsWellDefined": "ENSP00000507209.1:p.Arg327Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.1074G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:n.1074G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.1051G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.1051G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "G",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.2543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2916,
          "referenceAllele": "G",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.2916G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:n.1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.980G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Arg327Gln",
        "hgvsWellDefined": "ENSP00000506985.1:p.Arg327Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683850.1:n.1242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:n.1249G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.1230G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.1230G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.1296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:n.1296G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "G",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.1010G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:p.Arg337Gln",
        "hgvsWellDefined": "ENSP00000508192.1:p.Arg337Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2869,
          "referenceAllele": "G",
          "start": 2868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.2869G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.*498G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:n.*498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.1278G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.1249G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000389998.3:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1319G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1319G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Arg440Gln"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Arg440Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1307,
          "referenceAllele": "G",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.1289G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Arg430Gln",
        "hgvsWellDefined": "ENSP00000314488.3:p.Arg430Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000386966.3:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "G",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.5:c.1010G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.1:p.Arg337Gln",
        "hgvsWellDefined": "ENSP00000388671.1:p.Arg337Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Arg440Gln",
        "hgvsWellDefined": "ENSP00000389998.3:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.5:c.437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.1:p.Arg146Gln",
        "hgvsWellDefined": "ENSP00000403035.1:p.Arg146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000474944.5:n.457G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "referenceAllele": "G",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.1:c.141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144438",
      "coordinates": [
        {
          "allele": "A",
          "end": 1321,
          "referenceAllele": "G",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.1076G>A",
        "LRG_688t2:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_001135773.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102459",
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.1319G>A",
        "LRG_688t1:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Arg440Gln",
        "hgvsWellDefined": "NP_714915.3:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.1390G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "G",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Arg339Gln",
        "hgvsWellDefined": "XP_006716749.1:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716687.2:c.719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716750.1:p.Arg240Gln",
        "hgvsWellDefined": "XP_006716750.1:p.Arg240Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Arg146Gln",
        "hgvsWellDefined": "XP_011515665.1:p.Arg146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.1377G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.1377G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.1377G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.1377G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Arg339Gln",
        "hgvsWellDefined": "XP_006716749.1:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Arg146Gln",
        "hgvsWellDefined": "XP_011515665.1:p.Arg146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.665G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:p.Arg222Gln",
        "hgvsWellDefined": "XP_024303094.1:p.Arg222Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.1360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.1360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.1360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.1360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102459",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.1319G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Arg440Gln",
        "hgvsWellDefined": "NP_714915.3:p.Arg440Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1319G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1319G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Arg440Gln"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Arg440Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.1340G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}