{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1553927559",
  "communityStandardTitle": [
    "NM_001038603.3(MARVELD2):c.1498C= (p.Arg500=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203957",
        "rs": 118203957
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 69433088,
          "referenceAllele": "C",
          "start": 69433087
        }
      ],
      "hgvs": [
        "NC_000005.10:g.69433088C=",
        "CM000667.2:g.69433088C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 68728915,
          "referenceAllele": "C",
          "start": 68728914
        }
      ],
      "hgvs": [
        "NC_000005.9:g.68728915C=",
        "CM000667.1:g.68728915C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 68764671,
          "referenceAllele": "C",
          "start": 68764670
        }
      ],
      "hgvs": [
        "NC_000005.8:g.68764671C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22977,
          "referenceAllele": "C",
          "start": 22976
        }
      ],
      "hgvs": [
        "NG_017201.1:g.22977C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22977,
          "referenceAllele": "C",
          "start": 22976
        }
      ],
      "hgvs": [
        "NG_017201.2:g.22977C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706125"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000325631.10:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323264.5:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325631.10:c.1498C="
          },
          "RefSeq": {
            "hgvs": "NM_001038603.3:c.1498C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323264.5:p.Arg500="
          },
          "RefSeq": {
            "hgvs": "NP_001033692.2:p.Arg500="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000413223.3:c.1150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398922.2:p.Arg384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000436532.7:c.1150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414776.2:p.Arg384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "C",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000645446.1:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494616.1:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2007,
          "referenceAllele": "C",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000647531.1:c.1462C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493858.1:p.Arg488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000325631.9:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323264.5:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000413223.2:c.1150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398922.2:p.Arg384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000436532.6:c.1150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414776.2:p.Arg384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000454295.6:c.1462C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396244.2:p.Arg488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "ENST00000512803.5:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423490.1:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948567",
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "NM_001038603.2:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001033692.2:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "referenceAllele": "C",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "NM_001244734.1:c.1462C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001231663.1:p.Arg488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "C",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "XM_005248445.3:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248502.1:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "referenceAllele": "C",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "XM_005248446.3:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248503.1:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1837,
          "referenceAllele": "C",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "XM_005248447.3:c.1462C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248504.1:p.Arg488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "XM_005248445.4:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248502.1:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "XM_005248446.4:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248503.1:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1831,
          "referenceAllele": "C",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "XM_005248447.4:c.1462C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248504.1:p.Arg488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533078"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948567",
      "coordinates": [
        {
          "allele": "C",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "NM_001038603.3:c.1498C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001033692.2:p.Arg500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325631.10:c.1498C="
          },
          "RefSeq": {
            "hgvs": "NM_001038603.3:c.1498C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323264.5:p.Arg500="
          },
          "RefSeq": {
            "hgvs": "NP_001033692.2:p.Arg500="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "NM_001244734.2:c.1462C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001231663.1:p.Arg488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680309"
    }
  ],
  "type": "nucleotide"
}