{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA142670",
  "communityStandardTitle": [
    "NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57303[alleleid]",
        "alleleId": 57303,
        "preferredName": "NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48139",
        "RCV": [
          "RCV000041427",
          "RCV000432648",
          "RCV001127509"
        ],
        "variationId": 48139
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-72919086-G-A",
        "id": "17-72919086-G-A",
        "variant": "17:72919086 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72919086G>A?assembly=hg19",
        "id": "chr17:g.72919086G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74922991G>A?assembly=hg38",
        "id": "chr17:g.74922991G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145448362",
        "rs": 145448362
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72919086-G-A?dataset=gnomad_r2_1",
        "id": "17-72919086-G-A",
        "variant": "17:72919086 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74922991-G-A?dataset=gnomad_r3",
        "id": "17-74922991-G-A",
        "variant": "17:74922991 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74922991-G-A?dataset=gnomad_r4",
        "id": "17-74922991-G-A",
        "variant": "17:74922991 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 74922991,
          "referenceAllele": "G",
          "start": 74922990
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74922991G>A",
        "CM000679.2:g.74922991G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 72919086,
          "referenceAllele": "G",
          "start": 72919085
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72919086G>A",
        "CM000679.1:g.72919086G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 70430681,
          "referenceAllele": "G",
          "start": 70430680
        }
      ],
      "hgvs": [
        "NC_000017.9:g.70430681G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5266,
          "referenceAllele": "C",
          "start": 5265
        }
      ],
      "hgvs": [
        "NG_007882.1:g.5266C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3717,
          "referenceAllele": "G",
          "start": 3716
        }
      ],
      "hgvs": [
        "NG_033062.1:g.3717G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5273,
          "referenceAllele": "C",
          "start": 5272
        }
      ],
      "hgvs": [
        "NG_007882.2:g.5273C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3717,
          "referenceAllele": "G",
          "start": 3716
        }
      ],
      "hgvs": [
        "NG_033062.2:g.3717G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019657",
      "geneNCBI_id": 92736,
      "geneSymbol": "OTOP2",
      "hgvs": [
        "ENST00000580223.2:c.-274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463837.2:n.-274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000614341.5:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480279.1:p.Pro28Leu",
        "hgvsWellDefined": "ENSP00000480279.1:p.Pro28Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614341.5:c.83C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173477.5:c.83C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480279.1:p.Pro28Leu"
          },
          "RefSeq": {
            "hgvs": "NP_775748.2:p.Pro28Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "C",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000579243.1:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462568.1:p.Pro28Leu",
        "hgvsWellDefined": "ENSP00000462568.1:p.Pro28Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "C",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000614341.4:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480279.1:p.Pro28Leu",
        "hgvsWellDefined": "ENSP00000480279.1:p.Pro28Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_001282489.2:c.-174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269418.1:n.-174C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA142671",
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_173477.4:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775748.2:p.Pro28Leu",
        "hgvsWellDefined": "NP_775748.2:p.Pro28Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019657",
      "geneNCBI_id": 92736,
      "geneSymbol": "OTOP2",
      "hgvs": [
        "XM_011525479.1:c.-274G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523781.1:n.-274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "referenceAllele": "G",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019657",
      "geneNCBI_id": 92736,
      "geneSymbol": "OTOP2",
      "hgvs": [
        "XM_011525479.2:c.-274G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523781.1:n.-274G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA142671",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_173477.5:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775748.2:p.Pro28Leu",
        "hgvsWellDefined": "NP_775748.2:p.Pro28Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614341.5:c.83C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173477.5:c.83C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480279.1:p.Pro28Leu"
          },
          "RefSeq": {
            "hgvs": "NP_775748.2:p.Pro28Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_001282489.3:c.-174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269418.1:n.-174C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681797"
    }
  ],
  "type": "nucleotide"
}