{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA060062",
  "communityStandardTitle": [
    "NM_207346.3(TSEN54):c.[277T>C;919G>T] (p.[Ser93Pro;Ala307Ser])"
  ],
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75517064,
          "referenceAllele": "T",
          "start": 75517063
        },
        {
          "allele": "T",
          "end": 75522000,
          "referenceAllele": "G",
          "start": 75521999
        }
      ],
      "hgvs": [
        "NC_000017.11:g.[75517064T>C;75522000G>T]",
        "CM000679.2:g.[75517064T>C;75522000G>T]"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 73513145,
          "referenceAllele": "T",
          "start": 73513144
        },
        {
          "allele": "T",
          "end": 73518081,
          "referenceAllele": "G",
          "start": 73518080
        }
      ],
      "hgvs": [
        "NC_000017.10:g.[73513145T>C;73518081G>T]",
        "CM000679.1:g.[73513145T>C;73518081G>T]"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 71024740,
          "referenceAllele": "T",
          "start": 71024739
        },
        {
          "allele": "T",
          "end": 71029676,
          "referenceAllele": "G",
          "start": 71029675
        }
      ],
      "hgvs": [
        "NC_000017.9:g.[71024740T>C;71029676G>T]"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5537,
          "referenceAllele": "T",
          "start": 5536
        },
        {
          "allele": "T",
          "end": 10473,
          "referenceAllele": "G",
          "start": 10472
        }
      ],
      "hgvs": [
        "NG_013041.1:g.[5537T>C;10473G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        },
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000333213.11:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.[277T>C;919G>T]"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.[277T>C;919G>T]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.[Ser93Pro;Ala307Ser]"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "T",
          "start": 382
        },
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000434205.8:c.[-27T>C;616G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406559.4:p.Ala206Ser",
        "hgvsWellDefined": "ENSP00000406559.4:p.Ala206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        },
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000545228.3:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438169.3:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "ENSP00000438169.3:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76,
          "referenceAllele": "T",
          "start": 75
        },
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000579449.2:n.[76T>C;718G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "referenceAllele": "T",
          "start": 285
        },
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "G",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000580013.6:n.[286T>C;1122G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        },
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679370.1:n.[664T>C;1500G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        },
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679429.1:c.[277T>C;*377G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505403.1:[p.Ser93Pro;n.*377G>T]",
        "hgvsWellDefined": "ENSP00000505403.1:p.Ser93Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        },
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679443.1:n.[152T>C;988G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        },
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679782.1:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505995.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "ENSP00000505995.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        },
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679919.1:n.[152T>C;988G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        },
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679928.1:c.[277T>C;*530G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506071.1:[p.Ser93Pro;n.*530G>T]",
        "hgvsWellDefined": "ENSP00000506071.1:p.Ser93Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        },
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000680528.1:n.[302T>C;944G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        },
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000680999.1:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504984.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "ENSP00000504984.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        },
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000681282.1:c.[277T>C;*165G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506339.1:[p.Ser93Pro;n.*165G>T]",
        "hgvsWellDefined": "ENSP00000506339.1:p.Ser93Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "referenceAllele": "T",
          "start": 312
        },
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000333213.10:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149,
          "referenceAllele": "T",
          "start": 148
        },
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000578415.1:c.[149T>C;879G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 112,
          "referenceAllele": "T",
          "start": 111
        },
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000583173.5:c.[112T>C;459-7G>T]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463619.1:p.Ser38Pro",
        "hgvsWellDefined": "ENSP00000463619.1:p.Ser38Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        },
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "NM_207346.2:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "NP_997229.2:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        },
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_005257229.2:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257286.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "XP_005257286.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 901,
          "referenceAllele": "T",
          "start": 900
        },
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_006721821.2:c.[-27T>C;616G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721884.1:p.Ala206Ser",
        "hgvsWellDefined": "XP_006721884.1:p.Ala206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        },
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_011524616.1:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522918.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "XP_011522918.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        },
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_011524617.1:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522919.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "XP_011522919.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        },
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_011524618.1:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522920.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "XP_011522920.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        },
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XR_243646.2:n.[307T>C;949G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        },
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XM_005257229.4:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257286.1:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "XP_005257286.1:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "referenceAllele": "T",
          "start": 312
        },
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "XR_243646.4:n.[313T>C;955G>T]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        },
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "NM_207346.3:c.[277T>C;919G>T]"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.[Ser93Pro;Ala307Ser]",
        "hgvsWellDefined": "NP_997229.2:p.[Ser93Pro;Ala307Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.[277T>C;919G>T]"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.[277T>C;919G>T]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.[Ser93Pro;Ala307Ser]"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.[Ser93Pro;Ala307Ser]"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}