{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA173740",
  "communityStandardTitle": [
    "NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17159[alleleid]",
        "alleleId": 17159,
        "preferredName": "NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2120",
        "RCV": [
          "RCV000002201",
          "RCV000147790",
          "RCV000157630",
          "RCV000157631",
          "RCV000224437",
          "RCV000414963",
          "RCV000415005",
          "RCV000515314",
          "RCV000623727",
          "RCV000627018",
          "RCV001255369",
          "RCV001193388",
          "RCV001813937",
          "RCV001824557",
          "RCV003153294",
          "RCV003335010"
        ],
        "variationId": 2120
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73518081-G-T",
        "id": "17-73518081-G-T",
        "variant": "17:73518081 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73518081G>T?assembly=hg19",
        "id": "chr17:g.73518081G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75522000G>T?assembly=hg38",
        "id": "chr17:g.75522000G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994152",
        "rs": 113994152
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73518081-G-T?dataset=gnomad_r2_1",
        "id": "17-73518081-G-T",
        "variant": "17:73518081 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75522000-G-T?dataset=gnomad_r3",
        "id": "17-75522000-G-T",
        "variant": "17:75522000 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75522000-G-T?dataset=gnomad_r4",
        "id": "17-75522000-G-T",
        "variant": "17:75522000 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75522000,
          "referenceAllele": "G",
          "start": 75521999
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75522000G>T",
        "CM000679.2:g.75522000G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73518081,
          "referenceAllele": "G",
          "start": 73518080
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73518081G>T",
        "CM000679.1:g.73518081G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71029676,
          "referenceAllele": "G",
          "start": 71029675
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71029676G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10473,
          "referenceAllele": "G",
          "start": 10472
        }
      ],
      "hgvs": [
        "NG_013041.1:g.10473G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000333213.11:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327487.6:p.Ala307Ser",
        "hgvsWellDefined": "ENSP00000327487.6:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.919G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.919G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.Ala307Ser"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.Ala307Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000434205.8:c.616G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406559.4:p.Ala206Ser",
        "hgvsWellDefined": "ENSP00000406559.4:p.Ala206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000545228.3:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438169.3:p.Ala307Ser",
        "hgvsWellDefined": "ENSP00000438169.3:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000579449.2:n.718G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "G",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000580013.6:n.1122G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679370.1:n.1500G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679429.1:c.*377G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505403.1:n.*377G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679443.1:n.988G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679782.1:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505995.1:p.Ala307Ser",
        "hgvsWellDefined": "ENSP00000505995.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679919.1:n.988G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000679928.1:c.*530G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506071.1:n.*530G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000680528.1:n.944G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000680999.1:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504984.1:p.Ala307Ser",
        "hgvsWellDefined": "ENSP00000504984.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000681282.1:c.*165G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506339.1:n.*165G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000333213.10:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327487.6:p.Ala307Ser",
        "hgvsWellDefined": "ENSP00000327487.6:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8,
          "referenceAllele": "G",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000545228.2:c.8G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "ENST00000578415.1:c.879G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385350"
    },
    {
      "coordinates": [
        {
          "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.459-7G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463619.1:n.459-7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111177",
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.Ala307Ser",
        "hgvsWellDefined": "NP_997229.2:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045460"
    },
    {
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257286.1:p.Ala307Ser",
        "hgvsWellDefined": "XP_005257286.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061625"
    },
    {
      "coordinates": [
        {
          "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.616G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721884.1:p.Ala206Ser",
        "hgvsWellDefined": "XP_006721884.1:p.Ala206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074270"
    },
    {
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522918.1:p.Ala307Ser",
        "hgvsWellDefined": "XP_011522918.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091737"
    },
    {
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522919.1:p.Ala307Ser",
        "hgvsWellDefined": "XP_011522919.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091738"
    },
    {
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522920.1:p.Ala307Ser",
        "hgvsWellDefined": "XP_011522920.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091739"
    },
    {
      "coordinates": [
        {
          "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.949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116576"
    },
    {
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257286.1:p.Ala307Ser",
        "hgvsWellDefined": "XP_005257286.1:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534626"
    },
    {
      "coordinates": [
        {
          "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.955G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111177",
      "coordinates": [
        {
          "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.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.Ala307Ser",
        "hgvsWellDefined": "NP_997229.2:p.Ala307Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.919G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.919G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.Ala307Ser"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.Ala307Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}