{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339067260",
  "communityStandardTitle": [
    "NM_020485.8(RHCE):c.676G>T (p.Ala226Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.25717365C>A?assembly=hg19",
        "id": "chr1:g.25717365C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.25390874C>A?assembly=hg38",
        "id": "chr1:g.25390874C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/609320",
        "rs": 609320
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 25390874,
          "referenceAllele": "C",
          "start": 25390873
        }
      ],
      "hgvs": [
        "NC_000001.11:g.25390874C>A",
        "CM000663.2:g.25390874C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 25717365,
          "referenceAllele": "C",
          "start": 25717364
        }
      ],
      "hgvs": [
        "NC_000001.10:g.25717365C>A",
        "CM000663.1:g.25717365C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 25589952,
          "referenceAllele": "C",
          "start": 25589951
        }
      ],
      "hgvs": [
        "NC_000001.9:g.25589952C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44319,
          "referenceAllele": "G",
          "start": 44318
        }
      ],
      "hgvs": [
        "NG_009208.3:g.44319G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000294413.13:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294413.6:p.Ala226Ser",
        "hgvsWellDefined": "ENSP00000294413.6:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294413.13:c.676G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020485.8:c.676G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294413.6:p.Ala226Ser"
          },
          "RefSeq": {
            "hgvs": "NP_065231.4:p.Ala226Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000243186.10:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243186.7:p.Ala226Ser",
        "hgvsWellDefined": "ENSP00000243186.7:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000294413.11:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294413.6:p.Ala226Ser",
        "hgvsWellDefined": "ENSP00000294413.6:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 1760,
          "referenceAllele": "G",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000340849.8:c.487-1761G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345084.4:n.487-1761G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "endIntronDirection": "-",
          "endIntronOffset": 5029,
          "referenceAllele": "G",
          "start": 492,
          "startIntronDirection": "-",
          "startIntronOffset": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000346452.8:c.487-5030G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344485.4:n.487-5030G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000349320.7:c.628G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311185.4:p.Ala210Ser",
        "hgvsWellDefined": "ENSP00000311185.4:p.Ala210Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000349438.8:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334570.5:p.Ala226Ser",
        "hgvsWellDefined": "ENSP00000334570.5:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000374352.6:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363472.3:p.Ala226Ser",
        "hgvsWellDefined": "ENSP00000363472.3:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000413854.5:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415417.2:p.Ala226Ser",
        "hgvsWellDefined": "ENSP00000415417.2:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "G",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000527187.5:n.831G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 11722,
          "referenceAllele": "G",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 11721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000527747.5:c.107+11722G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 1760,
          "referenceAllele": "G",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "ENST00000533771.1:c.*132-1761G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435401.1:n.*132-1761G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_020485.4:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065231.3:p.Ala226Ser",
        "hgvsWellDefined": "NP_065231.3:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 5029,
          "referenceAllele": "G",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138616.3:c.487-5030G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619522.3:n.487-5030G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 1760,
          "referenceAllele": "G",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138617.3:c.487-1761G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619523.3:n.487-1761G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138618.3:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619524.3:p.Ala226Ser",
        "hgvsWellDefined": "NP_619524.3:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_005245957.2:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246014.1:p.Ala226Ser",
        "hgvsWellDefined": "XP_005246014.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_006710810.2:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710873.1:p.Ala226Ser",
        "hgvsWellDefined": "XP_006710873.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541888.1:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540190.1:p.Ala186Ser",
        "hgvsWellDefined": "XP_011540190.1:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541889.1:c.547G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540191.1:p.Ala183Ser",
        "hgvsWellDefined": "XP_011540191.1:p.Ala183Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541890.1:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540192.1:p.Ala226Ser",
        "hgvsWellDefined": "XP_011540192.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541891.1:c.508G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540193.1:p.Ala170Ser",
        "hgvsWellDefined": "XP_011540193.1:p.Ala170Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_001330430.2:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317359.1:p.Ala226Ser",
        "hgvsWellDefined": "NP_001317359.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_020485.5:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065231.3:p.Ala226Ser",
        "hgvsWellDefined": "NP_065231.3:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "endIntronDirection": "-",
          "endIntronOffset": 5029,
          "referenceAllele": "G",
          "start": 614,
          "startIntronDirection": "-",
          "startIntronOffset": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138616.4:c.487-5030G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619522.3:n.487-5030G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "endIntronDirection": "-",
          "endIntronOffset": 1760,
          "referenceAllele": "G",
          "start": 614,
          "startIntronDirection": "-",
          "startIntronOffset": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138617.4:c.487-1761G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619523.3:n.487-1761G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138618.5:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619524.5:p.Ala226Ser",
        "hgvsWellDefined": "NP_619524.5:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_005245957.4:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246014.1:p.Ala226Ser",
        "hgvsWellDefined": "XP_005246014.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_006710810.3:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710873.1:p.Ala226Ser",
        "hgvsWellDefined": "XP_006710873.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541888.3:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540190.1:p.Ala186Ser",
        "hgvsWellDefined": "XP_011540190.1:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541889.3:c.781G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540191.2:p.Ala261Ser",
        "hgvsWellDefined": "XP_011540191.2:p.Ala261Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_011541891.3:c.508G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540193.1:p.Ala170Ser",
        "hgvsWellDefined": "XP_011540193.1:p.Ala170Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "XM_017002014.2:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857503.1:p.Ala226Ser",
        "hgvsWellDefined": "XP_016857503.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_001330430.4:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317359.1:p.Ala226Ser",
        "hgvsWellDefined": "NP_001317359.1:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "hgvs": [
        "NM_020485.7:c.-4294966581G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS728442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 5029,
          "referenceAllele": "G",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138616.5:c.487-5030G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619522.3:n.487-5030G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 1760,
          "referenceAllele": "G",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138617.5:c.487-1761G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619523.3:n.487-1761G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_138618.6:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619524.5:p.Ala226Ser",
        "hgvsWellDefined": "NP_619524.5:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063873409",
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010008",
      "geneNCBI_id": 6006,
      "geneSymbol": "RHCE",
      "hgvs": [
        "NM_020485.8:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065231.4:p.Ala226Ser",
        "hgvsWellDefined": "NP_065231.4:p.Ala226Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294413.13:c.676G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020485.8:c.676G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294413.6:p.Ala226Ser"
          },
          "RefSeq": {
            "hgvs": "NP_065231.4:p.Ala226Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}