{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4808435",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=306015[alleleid]",
        "alleleId": 306015,
        "preferredName": "NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/363928",
        "RCV": [
          "RCV000293650",
          "RCV000348602",
          "RCV000390789",
          "RCV002058749"
        ],
        "variationId": 363928
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-94828620-T-C",
        "id": "8-94828620-T-C",
        "variant": "8:94828620 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94828620T>C?assembly=hg19",
        "id": "chr8:g.94828620T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93816392T>C?assembly=hg38",
        "id": "chr8:g.93816392T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369812327",
        "rs": 369812327
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94828620-T-C?dataset=gnomad_r2_1",
        "id": "8-94828620-T-C",
        "variant": "8:94828620 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93816392-T-C?dataset=gnomad_r3",
        "id": "8-93816392-T-C",
        "variant": "8:93816392 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93816392-T-C?dataset=gnomad_r4",
        "id": "8-93816392-T-C",
        "variant": "8:93816392 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 93816392,
          "referenceAllele": "T",
          "start": 93816391
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93816392T>C",
        "CM000670.2:g.93816392T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 94828620,
          "referenceAllele": "T",
          "start": 94828619
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94828620T>C",
        "CM000670.1:g.94828620T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 94897796,
          "referenceAllele": "T",
          "start": 94897795
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94897796T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 66549,
          "referenceAllele": "T",
          "start": 66548
        }
      ],
      "hgvs": [
        "NG_009190.1:g.66549T>C",
        "LRG_688:g.66549T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2928,
          "referenceAllele": "T",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.2928T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Asn976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2899,
          "referenceAllele": "T",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.2883T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Asn961="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2811,
          "referenceAllele": "T",
          "start": 2810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.2811T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Asn937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2067,
          "referenceAllele": "T",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.2046T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Asn682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518896.2:c.1219T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507992.1:n.1219T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3056,
          "referenceAllele": "T",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.3051T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Asn1017="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2829,
          "referenceAllele": "T",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.2829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Asn943="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2749,
          "referenceAllele": "T",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.2749T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.2749T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2190,
          "referenceAllele": "T",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.2169T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Asn723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2701,
          "referenceAllele": "T",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.2701T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:n.2701T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2790,
          "referenceAllele": "T",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.*2502T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.*2502T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3059,
          "referenceAllele": "T",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.3059T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:n.3059T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2363,
          "referenceAllele": "T",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682744.1:n.2363T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2751,
          "referenceAllele": "T",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.2751T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2417,
          "referenceAllele": "T",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:n.2417T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4978,
          "referenceAllele": "T",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.4978T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2610,
          "referenceAllele": "T",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.2589T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Asn863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2683,
          "referenceAllele": "T",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:n.2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2854,
          "referenceAllele": "T",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.2854T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.2854T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4152,
          "referenceAllele": "T",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.4152T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4525,
          "referenceAllele": "T",
          "start": 4524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.4525T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2646,
          "referenceAllele": "T",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.2646T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:n.2646T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2610,
          "referenceAllele": "T",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.2589T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Asn863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2858,
          "referenceAllele": "T",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.2858T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:n.2858T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2839,
          "referenceAllele": "T",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.2839T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.2839T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3099,
          "referenceAllele": "T",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.3099T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:n.3099T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2889,
          "referenceAllele": "T",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.2619T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:p.Asn873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4478,
          "referenceAllele": "T",
          "start": 4477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.4478T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2722,
          "referenceAllele": "T",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.*2107T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:n.*2107T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684343.1:c.1125T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507591.1:p.Asn375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2887,
          "referenceAllele": "T",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.2887T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3052,
          "referenceAllele": "T",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.3052T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.3052T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2949,
          "referenceAllele": "T",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.2928T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Asn976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.2928T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.2928T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Asn976="
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Asn976="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2916,
          "referenceAllele": "T",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.2898T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Asn966="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2887,
          "referenceAllele": "T",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.2685T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Asn895="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2986,
          "referenceAllele": "T",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.2928T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Asn976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "T",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518896.1:n.194T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "T",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000519845.5:n.1660T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825843401",
      "coordinates": [
        {
          "allele": "C",
          "end": 2930,
          "referenceAllele": "T",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.2685T>C",
        "LRG_688t2:c.2685T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Asn895="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830334449",
      "coordinates": [
        {
          "allele": "C",
          "end": 2999,
          "referenceAllele": "T",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.2928T>C",
        "LRG_688t1:c.2928T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Asn976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2999,
          "referenceAllele": "T",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.2999T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "T",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.2625T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Asn875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2343,
          "referenceAllele": "T",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716687.2:c.2328T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716750.1:p.Asn776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2089,
          "referenceAllele": "T",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.2046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Asn682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2986,
          "referenceAllele": "T",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.2986T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2986,
          "referenceAllele": "T",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.2986T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2986,
          "referenceAllele": "T",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.2986T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3180,
          "referenceAllele": "T",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.3180T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2837,
          "referenceAllele": "T",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.2625T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Asn875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "referenceAllele": "T",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.2046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Asn682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2685,
          "referenceAllele": "T",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.2274T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:p.Asn758="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2969,
          "referenceAllele": "T",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.2969T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2969,
          "referenceAllele": "T",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.2969T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2969,
          "referenceAllele": "T",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.2969T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3163,
          "referenceAllele": "T",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.3163T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830334449",
      "coordinates": [
        {
          "allele": "C",
          "end": 2949,
          "referenceAllele": "T",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.2928T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Asn976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.2928T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.2928T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Asn976="
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Asn976="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2949,
          "referenceAllele": "T",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.2949T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}