{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252487",
  "communityStandardTitle": [
    "NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17953[alleleid]",
        "alleleId": 17953,
        "preferredName": "NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2914",
        "RCV": [
          "RCV000003048"
        ],
        "variationId": 2914
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72919026A>G?assembly=hg19",
        "id": "chr17:g.72919026A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74922931A>G?assembly=hg38",
        "id": "chr17:g.74922931A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894651",
        "rs": 104894651
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 74922931,
          "referenceAllele": "A",
          "start": 74922930
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74922931A>G",
        "CM000679.2:g.74922931A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 72919026,
          "referenceAllele": "A",
          "start": 72919025
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72919026A>G",
        "CM000679.1:g.72919026A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 70430621,
          "referenceAllele": "A",
          "start": 70430620
        }
      ],
      "hgvs": [
        "NC_000017.9:g.70430621A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5326,
          "referenceAllele": "T",
          "start": 5325
        }
      ],
      "hgvs": [
        "NG_007882.1:g.5326T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3657,
          "referenceAllele": "A",
          "start": 3656
        }
      ],
      "hgvs": [
        "NG_033062.1:g.3657A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5333,
          "referenceAllele": "T",
          "start": 5332
        }
      ],
      "hgvs": [
        "NG_007882.2:g.5333T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3657,
          "referenceAllele": "A",
          "start": 3656
        }
      ],
      "hgvs": [
        "NG_033062.2:g.3657A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "T",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000614341.5:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480279.1:p.Leu48Pro",
        "hgvsWellDefined": "ENSP00000480279.1:p.Leu48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614341.5:c.143T>C"
          },
          "RefSeq": {
            "hgvs": "NM_173477.5:c.143T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480279.1:p.Leu48Pro"
          },
          "RefSeq": {
            "hgvs": "NP_775748.2:p.Leu48Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000579243.1:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462568.1:p.Leu48Pro",
        "hgvsWellDefined": "ENSP00000462568.1:p.Leu48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "ENST00000614341.4:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480279.1:p.Leu48Pro",
        "hgvsWellDefined": "ENSP00000480279.1:p.Leu48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_001282489.2:c.-114T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269418.1:n.-114T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104962",
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_173477.4:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775748.2:p.Leu48Pro",
        "hgvsWellDefined": "NP_775748.2:p.Leu48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104962",
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "T",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_173477.5:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775748.2:p.Leu48Pro",
        "hgvsWellDefined": "NP_775748.2:p.Leu48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614341.5:c.143T>C"
          },
          "RefSeq": {
            "hgvs": "NM_173477.5:c.143T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480279.1:p.Leu48Pro"
          },
          "RefSeq": {
            "hgvs": "NP_775748.2:p.Leu48Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "T",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NM_001282489.3:c.-114T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269418.1:n.-114T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681797"
    }
  ],
  "type": "nucleotide"
}