{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358397303",
  "communityStandardTitle": [
    "NM_002099.8(GYPA):c.59T>A (p.Leu20Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.145041720A>T?assembly=hg19",
        "id": "chr4:g.145041720A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.144120567A>T?assembly=hg38",
        "id": "chr4:g.144120567A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7682260",
        "rs": 7682260
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-144120567-A-T?dataset=gnomad_r3",
        "id": "4-144120567-A-T",
        "variant": "4:144120567 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-144120567-A-T?dataset=gnomad_r4",
        "id": "4-144120567-A-T",
        "variant": "4:144120567 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 144120567,
          "referenceAllele": "A",
          "start": 144120566
        }
      ],
      "hgvs": [
        "NC_000004.12:g.144120567A>T",
        "CM000666.2:g.144120567A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 145041720,
          "referenceAllele": "A",
          "start": 145041719
        }
      ],
      "hgvs": [
        "NC_000004.11:g.145041720A>T",
        "CM000666.1:g.145041720A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 145261170,
          "referenceAllele": "A",
          "start": 145261169
        }
      ],
      "hgvs": [
        "NC_000004.10:g.145261170A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000535709.6:c.53T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445398.2:p.Leu18Ter",
        "hgvsWellDefined": "ENSP00000445398.2:p.Leu18_Gln148delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000641688.3:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493142.2:p.Leu20Ter",
        "hgvsWellDefined": "ENSP00000493142.2:p.Leu20_Gln150delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766266",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641688.3:c.59T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002099.8:c.59T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493142.2:p.Leu20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002090.4:p.Leu20Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "referenceAllele": "T",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000642295.1:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496079.1:p.Leu20Ter",
        "hgvsWellDefined": "ENSP00000496079.1:p.Leu20_Lys145delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysArgGlnValIleAsnGluAsnLeuPheThrLysProAsnValGluArgThrGlnArgArgHisLysThrSerValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "T",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000642713.1:c.-20T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494092.1:n.-20T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 785,
          "referenceAllele": "T",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000642738.1:c.38-786T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494322.1:n.38-786T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 3627,
          "referenceAllele": "T",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000643148.1:c.38-3628T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495505.1:n.38-3628T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "endIntronDirection": "-",
          "endIntronOffset": 5799,
          "referenceAllele": "T",
          "start": 76,
          "startIntronDirection": "-",
          "startIntronOffset": 5800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000643254.1:n.77-5800T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "referenceAllele": "T",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000646447.1:c.-20T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495922.1:n.-20T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 785,
          "referenceAllele": "T",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000324022.14:c.38-786T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324483.10:n.38-786T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000360771.8:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354003.4:p.Leu20Ter",
        "hgvsWellDefined": "ENSP00000354003.4:p.Leu20_Gln150delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "T",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000503627.2:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421243.1:p.Leu20Ter",
        "hgvsWellDefined": "ENSP00000421243.1:p.Leu20_Gln105delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "T",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000504786.5:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425549.1:p.Leu20Ter",
        "hgvsWellDefined": "ENSP00000425549.1:p.Leu20_Gln118delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000508337.1:c.*13T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425719.1:n.*13T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117,
          "referenceAllele": "T",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000509346.5:n.117T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "T",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000512064.5:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426130.1:p.Leu20Ter",
        "hgvsWellDefined": "ENSP00000426130.1:p.Leu20_Gln137delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 1814,
          "referenceAllele": "T",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000512789.5:c.38-1815T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425193.1:n.38-1815T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117,
          "referenceAllele": "T",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000514603.1:n.117T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000535709.5:c.53T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445398.2:p.Leu18Ter",
        "hgvsWellDefined": "ENSP00000445398.2:p.Leu18_Gln148delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000616983.4:c.53T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478329.1:p.Leu18Ter",
        "hgvsWellDefined": "ENSP00000478329.1:p.Leu18_Gln148delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "referenceAllele": "T",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308187.1:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295116.1:p.Leu20Ter",
        "hgvsWellDefined": "NP_001295116.1:p.Leu20_Gln137delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 785,
          "referenceAllele": "T",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308190.1:c.38-786T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295119.1:n.38-786T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875061",
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_002099.6:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002090.4:p.Leu20Ter",
        "hgvsWellDefined": "NP_002090.4:p.Leu20_Gln150delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875061",
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "referenceAllele": "T",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_002099.7:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002090.4:p.Leu20Ter",
        "hgvsWellDefined": "NP_002090.4:p.Leu20_Gln150delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "T",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "XM_017008134.2:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863623.1:p.Leu20Ter",
        "hgvsWellDefined": "XP_016863623.1:p.Leu20_Lys145delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysArgGlnValIleAsnGluAsnLeuPheThrLysProAsnValGluArgThrGlnArgArgHisLysThrSerValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "XM_017008135.2:c.-20T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863624.1:n.-20T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 785,
          "referenceAllele": "T",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "XM_017008136.1:c.38-786T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863625.1:n.38-786T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 5338,
          "referenceAllele": "A",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 5337
        }
      ],
      "hgvs": [
        "XR_002959804.1:n.456+5338A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875061",
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_002099.8:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002090.4:p.Leu20Ter",
        "hgvsWellDefined": "NP_002090.4:p.Leu20_Gln150delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGlyGluArgValGlnLeuAlaHisHisPheSerGluProGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641688.3:c.59T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002099.8:c.59T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493142.2:p.Leu20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002090.4:p.Leu20Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308187.2:c.59T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295116.1:p.Leu20Ter",
        "hgvsWellDefined": "NP_001295116.1:p.Leu20_Gln137delinsSerThrThrGluValAlaMetHisThrSerThrSerSerSerValThrLysSerTyrIleSerSerGlnThrAsnAspThrHisLysArgAspThrTyrAlaAlaThrProArgAlaHisGluValSerGluIleSerValArgThrValTyrProProGluGluGluThrGluIleThrLeuIleIlePheGlyValMetAlaGlyValIleGlyThrIleLeuLeuIleSerTyrGlyIleArgArgLeuIleLysLysSerProSerAspValLysProLeuProSerProAspThrAspValProLeuSerSerValGluIleGluAsnProGluThrSerAspGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 120,
          "endIntronDirection": "-",
          "endIntronOffset": 785,
          "referenceAllele": "T",
          "start": 120,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308190.2:c.38-786T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295119.1:n.38-786T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683964"
    }
  ],
  "type": "nucleotide"
}