{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA173717",
  "communityStandardTitle": [
    "NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141462[alleleid]",
        "alleleId": 141462,
        "preferredName": "NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137759",
        "RCV": [
          "RCV000147774",
          "RCV000325339",
          "RCV001518249",
          "RCV001839921",
          "RCV001839923",
          "RCV001839922"
        ],
        "variationId": 137759
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73520359-C-G",
        "id": "17-73520359-C-G",
        "variant": "17:73520359 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73520359C>G?assembly=hg19",
        "id": "chr17:g.73520359C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75524278C>G?assembly=hg38",
        "id": "chr17:g.75524278C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62088470",
        "rs": 62088470
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73520359-C-G?dataset=gnomad_r2_1",
        "id": "17-73520359-C-G",
        "variant": "17:73520359 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75524278-C-G?dataset=gnomad_r3",
        "id": "17-75524278-C-G",
        "variant": "17:75524278 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75524278-C-G?dataset=gnomad_r4",
        "id": "17-75524278-C-G",
        "variant": "17:75524278 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75524278,
          "referenceAllele": "C",
          "start": 75524277
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75524278C>G",
        "CM000679.2:g.75524278C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 73520359,
          "referenceAllele": "C",
          "start": 73520358
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73520359C>G",
        "CM000679.1:g.73520359C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 71031954,
          "referenceAllele": "C",
          "start": 71031953
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71031954C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12751,
          "referenceAllele": "C",
          "start": 12750
        }
      ],
      "hgvs": [
        "NG_013041.1:g.12751C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000333213.11:c.1447C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327487.6:p.Pro483Ala",
        "hgvsWellDefined": "ENSP00000327487.6:p.Pro483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.1447C>G"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.1447C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.Pro483Ala"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.Pro483Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000434205.8:c.1144C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406559.4:p.Pro382Ala",
        "hgvsWellDefined": "ENSP00000406559.4:p.Pro382Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000545228.3:c.1635C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438169.3:p.Ser545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000577197.2:n.645C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000579449.2:n.2187C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2591,
          "referenceAllele": "C",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000580013.6:n.2591C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2969,
          "referenceAllele": "C",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679370.1:n.2969C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679429.1:c.*905C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505403.1:n.*905C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679443.1:n.1516C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679782.1:c.*146C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505995.1:n.*146C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679919.1:n.1718C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679928.1:c.*1999C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506071.1:n.*1999C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2413,
          "referenceAllele": "C",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000680528.1:n.2413C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000680999.1:c.1660C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504984.1:p.Pro554Ala",
        "hgvsWellDefined": "ENSP00000504984.1:p.Pro554Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2450,
          "referenceAllele": "C",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000681282.1:c.*1634C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506339.1:n.*1634C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000333213.10:c.1447C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327487.6:p.Pro483Ala",
        "hgvsWellDefined": "ENSP00000327487.6:p.Pro483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000545228.2:c.724C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000577197.1:n.195C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000579449.1:n.644C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173718",
      "coordinates": [
        {
          "allele": "G",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "NM_207346.2:c.1447C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.Pro483Ala",
        "hgvsWellDefined": "NP_997229.2:p.Pro483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_005257229.2:c.1635C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257286.1:p.Ser545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_006721821.2:c.1332C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721884.1:p.Ser444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_011524616.1:c.1518C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522918.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1562,
          "referenceAllele": "C",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_011524617.1:c.*29C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522919.1:n.*29C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_011524618.1:c.1330C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522920.1:p.Pro444Ala",
        "hgvsWellDefined": "XP_011522920.1:p.Pro444Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XR_243646.2:n.1679C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_005257229.4:c.1635C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257286.1:p.Ser545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87,
          "endIntronDirection": "+",
          "endIntronOffset": 33,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "+",
          "startIntronOffset": 32
        }
      ],
      "hgvs": [
        "XR_001753015.1:n.87+33G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 33,
          "referenceAllele": "G",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 32
        }
      ],
      "hgvs": [
        "XR_001753016.1:n.88+33G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XR_243646.4:n.1685C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173718",
      "coordinates": [
        {
          "allele": "G",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "NM_207346.3:c.1447C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.Pro483Ala",
        "hgvsWellDefined": "NP_997229.2:p.Pro483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.1447C>G"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.1447C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.Pro483Ala"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.Pro483Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}