{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7451988",
  "communityStandardTitle": [
    "NM_001252024.2(TRPM1):c.3127+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1515209[alleleid]",
        "alleleId": 1515209,
        "preferredName": "NM_001252024.2(TRPM1):c.3127+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1517049",
        "RCV": [
          "RCV002027062"
        ],
        "variationId": 1517049
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-31323185-C-T",
        "id": "15-31323185-C-T",
        "variant": "15:31323185 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31323185C>T?assembly=hg19",
        "id": "chr15:g.31323185C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31030982C>T?assembly=hg38",
        "id": "chr15:g.31030982C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749930261",
        "rs": 749930261
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31323185-C-T?dataset=gnomad_r2_1",
        "id": "15-31323185-C-T",
        "variant": "15:31323185 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31030982-C-T?dataset=gnomad_r3",
        "id": "15-31030982-C-T",
        "variant": "15:31030982 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31030982-C-T?dataset=gnomad_r4",
        "id": "15-31030982-C-T",
        "variant": "15:31030982 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 31030982,
          "referenceAllele": "C",
          "start": 31030981
        }
      ],
      "hgvs": [
        "NC_000015.10:g.31030982C>T",
        "CM000677.2:g.31030982C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 31323185,
          "referenceAllele": "C",
          "start": 31323184
        }
      ],
      "hgvs": [
        "NC_000015.9:g.31323185C>T",
        "CM000677.1:g.31323185C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 29110477,
          "referenceAllele": "C",
          "start": 29110476
        }
      ],
      "hgvs": [
        "NC_000015.8:g.29110477C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75740,
          "referenceAllele": "G",
          "start": 75739
        }
      ],
      "hgvs": [
        "NG_016453.1:g.75740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135292,
          "referenceAllele": "G",
          "start": 135291
        }
      ],
      "hgvs": [
        "NG_016453.2:g.135292G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000711434.1:c.3062G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518752.1:p.Arg1021His",
        "hgvsWellDefined": "ENSP00000518752.1:p.Arg1021His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.7:c.3061+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:n.3061+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3379,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3379,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.6:c.3178+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.2:n.3178+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 2505,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.6:c.545-2506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.2:n.545-2506G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3279,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3279,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.11:c.3127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.7:n.3127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.3127+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.3127+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:n.3127+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:n.3127+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3275,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3275,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.10:c.3127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.6:n.3127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.6:c.3061+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:n.3061+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3492,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3492,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000542188.5:c.3178+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437849.1:n.3178+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000557948.1:n.502+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558212.5:n.350+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3173,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3173,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.5:c.3061+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.1:n.3061+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2830,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2830,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558768.5:c.2830+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453119.2:n.2830+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 2505,
          "referenceAllele": "G",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.5:c.428-2506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.1:n.428-2506G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2703,
          "endIntronDirection": "-",
          "endIntronOffset": 1590,
          "referenceAllele": "G",
          "start": 2703,
          "startIntronDirection": "-",
          "startIntronOffset": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000560801.5:c.2704-1591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453644.2:n.2704-1591G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3492,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3492,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.1:c.3178+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:n.3178+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3280,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3280,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.1:c.3127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:n.3127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3194,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.5:c.3061+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:n.3061+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 3871,
          "referenceAllele": "C",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 3870
        }
      ],
      "hgvs": [
        "XR_932055.1:n.260+3871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 3871,
          "referenceAllele": "C",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 3870
        }
      ],
      "hgvs": [
        "XR_932056.1:n.89+3871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 3871,
          "referenceAllele": "C",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 3870
        }
      ],
      "hgvs": [
        "XR_932057.1:n.260+3871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 3871,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 3870
        }
      ],
      "hgvs": [
        "XR_932058.1:n.88+3871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "endIntronDirection": "+",
          "endIntronOffset": 3871,
          "referenceAllele": "C",
          "start": 278,
          "startIntronDirection": "+",
          "startIntronOffset": 3870
        }
      ],
      "hgvs": [
        "XR_001751769.1:n.278+3871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3279,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3279,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.2:c.3127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:n.3127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.3127+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.3127+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:n.3127+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:n.3127+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.6:c.3061+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:n.3061+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3379,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3379,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.2:c.3178+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:n.3178+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714610"
    }
  ],
  "type": "nucleotide"
}