{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12263160",
  "communityStandardTitle": [
    "NM_006877.4(GMPR):c.465+1077G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.16256043G>T?assembly=hg19",
        "id": "chr6:g.16256043G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.16255812G>T?assembly=hg38",
        "id": "chr6:g.16255812G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10484358",
        "rs": 10484358
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-16256043-G-T?dataset=gnomad_r2_1",
        "id": "6-16256043-G-T",
        "variant": "6:16256043 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-16255812-G-T?dataset=gnomad_r3",
        "id": "6-16255812-G-T",
        "variant": "6:16255812 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-16255812-G-T?dataset=gnomad_r4",
        "id": "6-16255812-G-T",
        "variant": "6:16255812 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 16255812,
          "referenceAllele": "G",
          "start": 16255811
        }
      ],
      "hgvs": [
        "NC_000006.12:g.16255812G>T",
        "CM000668.2:g.16255812G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 16256043,
          "referenceAllele": "G",
          "start": 16256042
        }
      ],
      "hgvs": [
        "NC_000006.11:g.16256043G>T",
        "CM000668.1:g.16256043G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 16364022,
          "referenceAllele": "G",
          "start": 16364021
        }
      ],
      "hgvs": [
        "NC_000006.10:g.16364022G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22233,
          "referenceAllele": "G",
          "start": 22232
        }
      ],
      "hgvs": [
        "NG_013303.1:g.22233G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002778"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 572,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004376",
      "geneNCBI_id": 2766,
      "geneSymbol": "GMPR",
      "hgvs": [
        "ENST00000259727.5:c.465+1077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259727.4:n.465+1077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259727.5:c.465+1077G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006877.4:c.465+1077G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259727.4:n.465+1077G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006868.3:n.465+1077G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004376",
      "geneNCBI_id": 2766,
      "geneSymbol": "GMPR",
      "hgvs": [
        "ENST00000259727.4:c.465+1077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259727.4:n.465+1077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004376",
      "geneNCBI_id": 2766,
      "geneSymbol": "GMPR",
      "hgvs": [
        "NM_006877.3:c.465+1077G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006868.3:n.465+1077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004376",
      "geneNCBI_id": 2766,
      "geneSymbol": "GMPR",
      "hgvs": [
        "XM_011514508.1:c.465+1077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512810.1:n.465+1077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 567,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004376",
      "geneNCBI_id": 2766,
      "geneSymbol": "GMPR",
      "hgvs": [
        "XM_011514508.2:c.465+1077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512810.1:n.465+1077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "+",
          "endIntronOffset": 1077,
          "referenceAllele": "G",
          "start": 572,
          "startIntronDirection": "+",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004376",
      "geneNCBI_id": 2766,
      "geneSymbol": "GMPR",
      "hgvs": [
        "NM_006877.4:c.465+1077G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006868.3:n.465+1077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259727.5:c.465+1077G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006877.4:c.465+1077G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259727.4:n.465+1077G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006868.3:n.465+1077G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}