{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127338",
  "communityStandardTitle": [
    "NM_002099.8(GYPA):c.232G>A (p.Gly78Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32753[alleleid]",
        "alleleId": 32753,
        "preferredName": "NM_002099.8(GYPA):c.232G>A (p.Gly78Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17714",
        "RCV": [
          "RCV000019288"
        ],
        "variationId": 17714
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-145040839-C-T",
        "id": "4-145040839-C-T",
        "variant": "4:145040839 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.145040839C>T?assembly=hg19",
        "id": "chr4:g.145040839C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.144119686C>T?assembly=hg38",
        "id": "chr4:g.144119686C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800582",
        "rs": 1800582
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-145040839-C-T?dataset=gnomad_r2_1",
        "id": "4-145040839-C-T",
        "variant": "4:145040839 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-144119686-C-T?dataset=gnomad_r3",
        "id": "4-144119686-C-T",
        "variant": "4:144119686 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-144119686-C-T?dataset=gnomad_r4",
        "id": "4-144119686-C-T",
        "variant": "4:144119686 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 144119686,
          "referenceAllele": "C",
          "start": 144119685
        }
      ],
      "hgvs": [
        "NC_000004.12:g.144119686C>T",
        "CM000666.2:g.144119686C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 145040839,
          "referenceAllele": "C",
          "start": 145040838
        }
      ],
      "hgvs": [
        "NC_000004.11:g.145040839C>T",
        "CM000666.1:g.145040839C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 145260289,
          "referenceAllele": "C",
          "start": 145260288
        }
      ],
      "hgvs": [
        "NC_000004.10:g.145260289C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26066,
          "referenceAllele": "G",
          "start": 26065
        }
      ],
      "hgvs": [
        "NG_007470.3:g.26066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000595"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000535709.6:c.226G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445398.2:p.Gly76Arg",
        "hgvsWellDefined": "ENSP00000445398.2:p.Gly76Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000641688.3:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493142.2:p.Gly78Arg",
        "hgvsWellDefined": "ENSP00000493142.2:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766266",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641688.3:c.232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002099.8:c.232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493142.2:p.Gly78Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002090.4:p.Gly78Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000642295.1:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496079.1:p.Gly78Arg",
        "hgvsWellDefined": "ENSP00000496079.1:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000642713.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494092.1:p.Gly52Arg",
        "hgvsWellDefined": "ENSP00000494092.1:p.Gly52Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000642738.1:c.133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494322.1:p.Gly45Arg",
        "hgvsWellDefined": "ENSP00000494322.1:p.Gly45Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 2746,
          "referenceAllele": "G",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000643148.1:c.38-2747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495505.1:n.38-2747G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "endIntronDirection": "-",
          "endIntronOffset": 4918,
          "referenceAllele": "G",
          "start": 76,
          "startIntronDirection": "-",
          "startIntronOffset": 4919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000643254.1:n.77-4919G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000646447.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495922.1:p.Gly52Arg",
        "hgvsWellDefined": "ENSP00000495922.1:p.Gly52Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000324022.14:c.133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324483.10:p.Gly45Arg",
        "hgvsWellDefined": "ENSP00000324483.10:p.Gly45Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000360771.8:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354003.4:p.Gly78Arg",
        "hgvsWellDefined": "ENSP00000354003.4:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000503627.2:c.136+804G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421243.1:n.136+804G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000504786.5:c.136+804G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425549.1:n.136+804G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000508337.1:c.*186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425719.1:n.*186G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000509346.5:n.194+804G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000512064.5:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426130.1:p.Glu78Lys",
        "hgvsWellDefined": "ENSP00000426130.1:p.Glu78Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 933,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000512789.5:c.38-934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425193.1:n.38-934G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000514603.1:n.290G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000535709.5:c.226G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445398.2:p.Gly76Arg",
        "hgvsWellDefined": "ENSP00000445398.2:p.Gly76Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "ENST00000616983.4:c.226G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478329.1:p.Gly76Arg",
        "hgvsWellDefined": "ENSP00000478329.1:p.Gly76Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826929838",
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308187.1:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295116.1:p.Glu78Lys",
        "hgvsWellDefined": "NP_001295116.1:p.Glu78Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826929877",
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308190.1:c.133G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295119.1:p.Gly45Arg",
        "hgvsWellDefined": "NP_001295119.1:p.Gly45Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127339",
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_002099.6:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002090.4:p.Gly78Arg",
        "hgvsWellDefined": "NP_002090.4:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127339",
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_002099.7:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002090.4:p.Gly78Arg",
        "hgvsWellDefined": "NP_002090.4:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "XM_017008134.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863623.1:p.Gly78Arg",
        "hgvsWellDefined": "XP_016863623.1:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "XM_017008135.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863624.1:p.Gly52Arg",
        "hgvsWellDefined": "XP_016863624.1:p.Gly52Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "XM_017008136.1:c.133G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863625.1:p.Gly45Arg",
        "hgvsWellDefined": "XP_016863625.1:p.Gly45Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 4457,
          "referenceAllele": "C",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 4456
        }
      ],
      "hgvs": [
        "XR_002959804.1:n.456+4457C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127339",
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_002099.8:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002090.4:p.Gly78Arg",
        "hgvsWellDefined": "NP_002090.4:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641688.3:c.232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002099.8:c.232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493142.2:p.Gly78Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002090.4:p.Gly78Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826929838",
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308187.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295116.1:p.Glu78Lys",
        "hgvsWellDefined": "NP_001295116.1:p.Glu78Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826929877",
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004702",
      "geneNCBI_id": 2993,
      "geneSymbol": "GYPA",
      "hgvs": [
        "NM_001308190.2:c.133G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295119.1:p.Gly45Arg",
        "hgvsWellDefined": "NP_001295119.1:p.Gly45Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683964"
    }
  ],
  "type": "nucleotide"
}