{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA184442",
  "communityStandardTitle": [
    "NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176500[alleleid]",
        "alleleId": 176500,
        "preferredName": "NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179451",
        "RCV": [
          "RCV000156240",
          "RCV001517890",
          "RCV003389459"
        ],
        "variationId": 179451
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-72916214-C-G",
        "id": "17-72916214-C-G",
        "variant": "17:72916214 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72916214C>G?assembly=hg19",
        "id": "chr17:g.72916214C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74920119C>G?assembly=hg38",
        "id": "chr17:g.74920119C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/544952984",
        "rs": 544952984
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72916214-C-G?dataset=gnomad_r2_1",
        "id": "17-72916214-C-G",
        "variant": "17:72916214 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74920119-C-G?dataset=gnomad_r3",
        "id": "17-74920119-C-G",
        "variant": "17:74920119 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74920119-C-G?dataset=gnomad_r4",
        "id": "17-74920119-C-G",
        "variant": "17:74920119 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 74920119,
          "referenceAllele": "C",
          "start": 74920118
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74920119C>G",
        "CM000679.2:g.74920119C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 72916214,
          "referenceAllele": "C",
          "start": 72916213
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72916214C>G",
        "CM000679.1:g.72916214C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 70427809,
          "referenceAllele": "C",
          "start": 70427808
        }
      ],
      "hgvs": [
        "NC_000017.9:g.70427809C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8138,
          "referenceAllele": "G",
          "start": 8137
        }
      ],
      "hgvs": [
        "NG_007882.1:g.8138G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "hgvs": [
        "NG_033062.1:g.845C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8145,
          "referenceAllele": "G",
          "start": 8144
        }
      ],
      "hgvs": [
        "NG_007882.2:g.8145G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "hgvs": [
        "NG_033062.2:g.845C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000614341.5:c.717G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480279.1:p.Lys239Asn",
        "hgvsWellDefined": "ENSP00000480279.1:p.Lys239Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614341.5:c.717G>C"
          },
          "RefSeq": {
            "hgvs": "NM_173477.5:c.717G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480279.1:p.Lys239Asn"
          },
          "RefSeq": {
            "hgvs": "NP_775748.2:p.Lys239Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000579243.1:c.*316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462568.1:n.*316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000614341.4:c.717G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480279.1:p.Lys239Asn",
        "hgvsWellDefined": "ENSP00000480279.1:p.Lys239Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826648104",
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_001282489.2:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269418.1:p.Lys136Asn",
        "hgvsWellDefined": "NP_001269418.1:p.Lys136Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA184443",
      "coordinates": [
        {
          "allele": "C",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_173477.4:c.717G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775748.2:p.Lys239Asn",
        "hgvsWellDefined": "NP_775748.2:p.Lys239Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "XM_011524296.1:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522598.1:p.Lys136Asn",
        "hgvsWellDefined": "XP_011522598.1:p.Lys136Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "XM_011524296.2:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522598.1:p.Lys136Asn",
        "hgvsWellDefined": "XP_011522598.1:p.Lys136Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA184443",
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_173477.5:c.717G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775748.2:p.Lys239Asn",
        "hgvsWellDefined": "NP_775748.2:p.Lys239Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614341.5:c.717G>C"
          },
          "RefSeq": {
            "hgvs": "NM_173477.5:c.717G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480279.1:p.Lys239Asn"
          },
          "RefSeq": {
            "hgvs": "NP_775748.2:p.Lys239Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826648104",
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_001282489.3:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269418.1:p.Lys136Asn",
        "hgvsWellDefined": "NP_001269418.1:p.Lys136Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681797"
    }
  ],
  "type": "nucleotide"
}