{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4807990",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=315517[alleleid]",
        "alleleId": 315517,
        "preferredName": "NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/363921",
        "RCV": [
          "RCV000275749",
          "RCV000330820",
          "RCV000366747",
          "RCV002058748",
          "RCV002523705"
        ],
        "variationId": 363921
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-94800170-C-A",
        "id": "8-94800170-C-A",
        "variant": "8:94800170 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94800170C>A?assembly=hg19",
        "id": "chr8:g.94800170C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93787942C>A?assembly=hg38",
        "id": "chr8:g.93787942C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114655330",
        "rs": 114655330
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94800170-C-A?dataset=gnomad_r2_1",
        "id": "8-94800170-C-A",
        "variant": "8:94800170 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93787942-C-A?dataset=gnomad_r3",
        "id": "8-93787942-C-A",
        "variant": "8:93787942 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93787942-C-A?dataset=gnomad_r4",
        "id": "8-93787942-C-A",
        "variant": "8:93787942 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 93787942,
          "referenceAllele": "C",
          "start": 93787941
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93787942C>A",
        "CM000670.2:g.93787942C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 94800170,
          "referenceAllele": "C",
          "start": 94800169
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94800170C>A",
        "CM000670.1:g.94800170C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 94869346,
          "referenceAllele": "C",
          "start": 94869345
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94869346C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38099,
          "referenceAllele": "C",
          "start": 38098
        }
      ],
      "hgvs": [
        "NG_009190.1:g.38099C>A",
        "LRG_688:g.38099C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000314488.4:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.1466C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Ser489Tyr",
        "hgvsWellDefined": "ENSP00000386966.4:p.Ser489Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000388671.2:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.629C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Ser210Tyr",
        "hgvsWellDefined": "ENSP00000403035.2:p.Ser210Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000428785.2:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000430740.2:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.1332C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.1332C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.629C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Ser210Tyr",
        "hgvsWellDefined": "ENSP00000508390.1:p.Ser210Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.1284C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:n.1284C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.*1085C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.*1085C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000507627.1:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682744.1:n.1049C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.1334C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.1000C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:n.1000C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3561,
          "referenceAllele": "C",
          "start": 3560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.3561C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.1172C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Ser391Tyr",
        "hgvsWellDefined": "ENSP00000507209.1:p.Ser391Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.1266C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:n.1266C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.1243C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.1243C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2735,
          "referenceAllele": "C",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.2735C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3108,
          "referenceAllele": "C",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.3108C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.1332C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:n.1332C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.1172C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Ser391Tyr",
        "hgvsWellDefined": "ENSP00000506985.1:p.Ser391Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683850.1:n.1434C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1441,
          "referenceAllele": "C",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.1441C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:n.1441C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.1422C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.1422C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.1488C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:n.1488C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.1202C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:p.Ser401Tyr",
        "hgvsWellDefined": "ENSP00000508192.1:p.Ser401Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3061,
          "referenceAllele": "C",
          "start": 3060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.3061C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.*690C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:n.*690C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.1470C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1441,
          "referenceAllele": "C",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.1441C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.1441C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000389998.3:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1511C>A"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1511C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Ser504Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Ser504Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.1481C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Ser494Tyr",
        "hgvsWellDefined": "ENSP00000314488.3:p.Ser494Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.1268C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Ser423Tyr",
        "hgvsWellDefined": "ENSP00000386966.3:p.Ser423Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Ser504Tyr",
        "hgvsWellDefined": "ENSP00000389998.3:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000474944.5:n.649C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.1:c.333C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825843131",
      "coordinates": [
        {
          "allele": "A",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.1268C>A",
        "LRG_688t2:c.1268C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Ser423Tyr",
        "hgvsWellDefined": "NP_001135773.1:p.Ser423Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453150",
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.1511C>A",
        "LRG_688t1:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Ser504Tyr",
        "hgvsWellDefined": "NP_714915.3:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.1582C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.1208C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Ser403Tyr",
        "hgvsWellDefined": "XP_006716749.1:p.Ser403Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716687.2:c.911C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716750.1:p.Ser304Tyr",
        "hgvsWellDefined": "XP_006716750.1:p.Ser304Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.629C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Ser210Tyr",
        "hgvsWellDefined": "XP_011515665.1:p.Ser210Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.1569C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.1569C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.1569C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.1569C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.1208C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Ser403Tyr",
        "hgvsWellDefined": "XP_006716749.1:p.Ser403Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.629C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Ser210Tyr",
        "hgvsWellDefined": "XP_011515665.1:p.Ser210Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.857C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:p.Ser286Tyr",
        "hgvsWellDefined": "XP_024303094.1:p.Ser286Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.1552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.1552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.1552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.1552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453150",
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.1511C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Ser504Tyr",
        "hgvsWellDefined": "NP_714915.3:p.Ser504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1511C>A"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1511C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Ser504Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Ser504Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.1532C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}