{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373442541",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2831871[alleleid]",
        "alleleId": 2831871,
        "preferredName": "NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2664416",
        "RCV": [
          "RCV003447376"
        ],
        "variationId": 2664416
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37426591C>A?assembly=hg19",
        "id": "chr9:g.37426591C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37426594C>A?assembly=hg38",
        "id": "chr9:g.37426594C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2489236019",
        "rs": 2489236019
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37426594,
          "referenceAllele": "C",
          "start": 37426593
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37426594C>A",
        "CM000671.2:g.37426594C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37426591,
          "referenceAllele": "C",
          "start": 37426590
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37426591C>A",
        "CM000671.1:g.37426591C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37416591,
          "referenceAllele": "C",
          "start": 37416590
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37416591C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8885,
          "referenceAllele": "C",
          "start": 8884
        }
      ],
      "hgvs": [
        "NG_008135.1:g.8885C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Ala115Glu",
        "hgvsWellDefined": "ENSP00000313432.6:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.344C>A"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.344C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Ala115Glu"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Ala115Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Ala115Glu",
        "hgvsWellDefined": "ENSP00000313432.6:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.381C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.371C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000487399.5:n.896C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 1889,
          "referenceAllele": "C",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.110-1890C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000493368.5:n.401C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:p.Ala115Glu",
        "hgvsWellDefined": "ENSP00000475569.1:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741937877",
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Ala115Glu",
        "hgvsWellDefined": "NP_036335.1:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1889,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.84-1890C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:n.84-1890C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.-419C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:n.-419C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.429C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:p.Ala115Glu",
        "hgvsWellDefined": "XP_016870809.1:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:p.Ala115Glu",
        "hgvsWellDefined": "XP_016870810.1:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.-419C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:n.-419C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.617C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:p.Ala206Glu",
        "hgvsWellDefined": "XP_024303484.1:p.Ala206Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.617C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:p.Ala206Glu",
        "hgvsWellDefined": "XP_024303485.1:p.Ala206Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.632C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.632C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.403C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1889,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.139-1890C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.403C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741937877",
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.344C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Ala115Glu",
        "hgvsWellDefined": "NP_036335.1:p.Ala115Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.344C>A"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.344C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Ala115Glu"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Ala115Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}