{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340171630",
  "communityStandardTitle": [
    "NM_017739.4(POMGNT1):c.1658A>G (p.Glu553Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.46655653T>C?assembly=hg19",
        "id": "chr1:g.46655653T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.46189981T>C?assembly=hg38",
        "id": "chr1:g.46189981T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 46189981,
          "referenceAllele": "T",
          "start": 46189980
        }
      ],
      "hgvs": [
        "NC_000001.11:g.46189981T>C",
        "CM000663.2:g.46189981T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 46655653,
          "referenceAllele": "T",
          "start": 46655652
        }
      ],
      "hgvs": [
        "NC_000001.10:g.46655653T>C",
        "CM000663.1:g.46655653T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 46428240,
          "referenceAllele": "T",
          "start": 46428239
        }
      ],
      "hgvs": [
        "NC_000001.9:g.46428240T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35325,
          "referenceAllele": "A",
          "start": 35324
        }
      ],
      "hgvs": [
        "NG_009205.2:g.35325A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35325,
          "referenceAllele": "A",
          "start": 35324
        }
      ],
      "hgvs": [
        "NG_009205.3:g.35325A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733322"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "A",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000396420.8:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379698.4:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000379698.4:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000497439.6:n.1830A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2018,
          "referenceAllele": "A",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000684817.1:n.2018A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2220,
          "referenceAllele": "A",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000684898.1:n.2220A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1739,
          "referenceAllele": "A",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685230.1:c.*968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510305.1:n.*968A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685275.1:n.2205A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "A",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685444.1:c.1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510762.1:p.Glu520Gly",
        "hgvsWellDefined": "ENSP00000510762.1:p.Glu520Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2324,
          "referenceAllele": "A",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685704.1:n.2324A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4051,
          "referenceAllele": "A",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685833.1:n.4051A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2732,
          "referenceAllele": "A",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686252.1:n.2732A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1908,
          "referenceAllele": "A",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686379.1:c.*782A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508913.1:n.*782A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3345,
          "referenceAllele": "A",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686724.1:n.3345A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1860,
          "referenceAllele": "A",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686737.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508736.1:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000508736.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2524,
          "referenceAllele": "A",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687112.1:n.2524A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1869,
          "referenceAllele": "A",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687149.1:c.1697A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509745.1:p.Glu566Gly",
        "hgvsWellDefined": "ENSP00000509745.1:p.Glu566Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687197.1:c.*598A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510749.1:n.*598A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3735,
          "referenceAllele": "A",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687235.1:n.3735A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2298,
          "referenceAllele": "A",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687613.1:n.2298A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1959,
          "referenceAllele": "A",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687683.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508522.1:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000508522.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "referenceAllele": "A",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000688032.1:n.2195A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000688596.1:n.2309A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1785,
          "referenceAllele": "A",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000688608.1:c.1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508890.1:p.Glu520Gly",
        "hgvsWellDefined": "ENSP00000508890.1:p.Glu520Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000689031.1:n.2110A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1711,
          "referenceAllele": "A",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000689756.1:c.*1290A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509023.1:n.*1290A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "A",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000690377.1:n.2005A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000690678.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508703.1:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000508703.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000691209.1:c.*598A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510112.1:n.*598A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1805,
          "referenceAllele": "A",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000691243.1:c.*49A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510654.1:n.*49A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2233,
          "referenceAllele": "A",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692202.1:n.2233A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1742,
          "referenceAllele": "A",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692322.1:c.*1445A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509017.1:n.*1445A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692369.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508453.1:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000508453.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3533,
          "referenceAllele": "A",
          "start": 3532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692599.1:n.3533A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692635.1:c.*533A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508425.1:n.*533A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3434,
          "referenceAllele": "A",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000693168.1:n.3434A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2032,
          "referenceAllele": "A",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000693218.1:c.*219A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510577.1:n.*219A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2606,
          "referenceAllele": "A",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000693223.1:n.2606A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000371984.8:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361052.3:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000361052.3:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371984.8:c.1658A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017739.4:c.1658A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361052.3:p.Glu553Gly"
          },
          "RefSeq": {
            "hgvs": "NP_060209.4:p.Glu553Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "A",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000371984.7:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361052.3:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000361052.3:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000371992.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361060.1:p.Glu553Gly",
        "hgvsWellDefined": "ENSP00000361060.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2567,
          "referenceAllele": "A",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000396420.7:c.*1327A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379698.3:n.*1327A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "A",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000480972.1:n.307A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001243766.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230695.1:p.Glu553Gly",
        "hgvsWellDefined": "NP_001230695.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290129.1:c.1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277058.1:p.Glu531Gly",
        "hgvsWellDefined": "NP_001277058.1:p.Glu531Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1696,
          "referenceAllele": "A",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290130.1:c.1229A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277059.1:p.Glu410Gly",
        "hgvsWellDefined": "NP_001277059.1:p.Glu410Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "A",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_017739.3:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060209.3:p.Glu553Gly",
        "hgvsWellDefined": "NP_060209.3:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_005271010.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271067.1:p.Glu553Gly",
        "hgvsWellDefined": "XP_005271067.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_006710755.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710818.1:p.Glu553Gly",
        "hgvsWellDefined": "XP_006710818.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_006710756.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710819.1:p.Glu553Gly",
        "hgvsWellDefined": "XP_006710819.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 816,
          "endIntronDirection": "+",
          "endIntronOffset": 4673,
          "referenceAllele": "T",
          "start": 816,
          "startIntronDirection": "+",
          "startIntronOffset": 4672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020657",
      "geneNCBI_id": 10103,
      "geneSymbol": "TSPAN1",
      "hgvs": [
        "XM_011540460.1:c.678+4673T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538762.1:n.678+4673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "endIntronDirection": "+",
          "endIntronOffset": 4673,
          "referenceAllele": "T",
          "start": 868,
          "startIntronDirection": "+",
          "startIntronOffset": 4672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020657",
      "geneNCBI_id": 10103,
      "geneSymbol": "TSPAN1",
      "hgvs": [
        "XM_011540461.1:c.633+4673T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538763.1:n.633+4673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "A",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541759.1:c.1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540061.1:p.Glu531Gly",
        "hgvsWellDefined": "XP_011540061.1:p.Glu531Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "A",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541760.1:c.1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540062.1:p.Glu531Gly",
        "hgvsWellDefined": "XP_011540062.1:p.Glu531Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 924,
          "referenceAllele": "A",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541761.1:c.566A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540063.1:p.Glu189Gly",
        "hgvsWellDefined": "XP_011540063.1:p.Glu189Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 4673,
          "referenceAllele": "T",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 4672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020657",
      "geneNCBI_id": 10103,
      "geneSymbol": "TSPAN1",
      "hgvs": [
        "XM_011540460.3:c.678+4673T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538762.1:n.678+4673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "A",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541760.3:c.1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540062.1:p.Glu531Gly",
        "hgvsWellDefined": "XP_011540062.1:p.Glu531Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_017001690.1:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857179.1:p.Glu553Gly",
        "hgvsWellDefined": "XP_016857179.1:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001243766.2:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230695.2:p.Glu553Gly",
        "hgvsWellDefined": "NP_001230695.2:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290129.2:c.1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277058.2:p.Glu531Gly",
        "hgvsWellDefined": "NP_001277058.2:p.Glu531Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1696,
          "referenceAllele": "A",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290130.2:c.1229A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277059.2:p.Glu410Gly",
        "hgvsWellDefined": "NP_001277059.2:p.Glu410Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_017739.4:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060209.4:p.Glu553Gly",
        "hgvsWellDefined": "NP_060209.4:p.Glu553Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371984.8:c.1658A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017739.4:c.1658A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361052.3:p.Glu553Gly"
          },
          "RefSeq": {
            "hgvs": "NP_060209.4:p.Glu553Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}