{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373444619",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.865+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3062474[alleleid]",
        "alleleId": 3062474,
        "preferredName": "NM_012203.2(GRHPR):c.865+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2907324",
        "RCV": [
          "RCV003727080"
        ],
        "variationId": 2907324
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37432136G>A?assembly=hg19",
        "id": "chr9:g.37432136G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37432139G>A?assembly=hg38",
        "id": "chr9:g.37432139G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771990662",
        "rs": 771990662
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37432139,
          "referenceAllele": "G",
          "start": 37432138
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37432139G>A",
        "CM000671.2:g.37432139G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37432136,
          "referenceAllele": "G",
          "start": 37432135
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37432136G>A",
        "CM000671.1:g.37432136G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37422136,
          "referenceAllele": "G",
          "start": 37422135
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37422136G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14430,
          "referenceAllele": "G",
          "start": 14429
        }
      ],
      "hgvs": [
        "NG_008135.1:g.14430G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 920,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.865+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.865+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:n.865+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:n.865+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 950,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 892,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.892+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000480596.5:n.1566+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000482603.1:n.318+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.570+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1483,
          "endIntronDirection": "+",
          "endIntronOffset": 988,
          "referenceAllele": "G",
          "start": 1483,
          "startIntronDirection": "+",
          "startIntronOffset": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000494290.1:c.*51+988G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432021.1:n.*51+988G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4433,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4433,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000497693.1:n.4433+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000512404.2:n.53G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 870,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 906,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.544+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:n.544+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1256,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.463+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:n.463+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1281,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.463+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:n.463+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.1138+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:n.1138+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.1138+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:n.1138+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.1153+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.1153+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2285,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2285,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.2285+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1960,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1960,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.1960+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.1284+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 920,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.865+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:n.865+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.865+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.865+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:n.865+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:n.865+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}