{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4851793",
  "communityStandardTitle": [
    "NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273463[alleleid]",
        "alleleId": 273463,
        "preferredName": "NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289226",
        "RCV": [
          "RCV000325793",
          "RCV001316464"
        ],
        "variationId": 289226
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-116616589-T-C",
        "id": "8-116616589-T-C",
        "variant": "8:116616589 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.116616589T>C?assembly=hg19",
        "id": "chr8:g.116616589T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.115604362T>C?assembly=hg38",
        "id": "chr8:g.115604362T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749022707",
        "rs": 749022707
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-116616589-T-C?dataset=gnomad_r2_1",
        "id": "8-116616589-T-C",
        "variant": "8:116616589 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-115604362-T-C?dataset=gnomad_r3",
        "id": "8-115604362-T-C",
        "variant": "8:115604362 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-115604362-T-C?dataset=gnomad_r4",
        "id": "8-115604362-T-C",
        "variant": "8:115604362 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 115604362,
          "referenceAllele": "T",
          "start": 115604361
        }
      ],
      "hgvs": [
        "NC_000008.11:g.115604362T>C",
        "CM000670.2:g.115604362T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 116616589,
          "referenceAllele": "T",
          "start": 116616588
        }
      ],
      "hgvs": [
        "NC_000008.10:g.116616589T>C",
        "CM000670.1:g.116616589T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 116685764,
          "referenceAllele": "T",
          "start": 116685763
        }
      ],
      "hgvs": [
        "NC_000008.9:g.116685764T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69640,
          "referenceAllele": "A",
          "start": 69639
        }
      ],
      "hgvs": [
        "NG_012383.3:g.69640A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2159,
          "referenceAllele": "A",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.8:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Tyr536Cys",
        "hgvsWellDefined": "ENSP00000379065.3:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.1607A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.1607A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Tyr536Cys"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Tyr536Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1709,
          "referenceAllele": "A",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000640765.1:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492037.1:p.Tyr523Cys",
        "hgvsWellDefined": "ENSP00000492037.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "referenceAllele": "A",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000220888.9:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220888.5:p.Tyr523Cys",
        "hgvsWellDefined": "ENSP00000220888.5:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2185,
          "referenceAllele": "A",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000395715.7:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379065.3:p.Tyr536Cys",
        "hgvsWellDefined": "ENSP00000379065.3:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "endIntronDirection": "+",
          "endIntronOffset": 289,
          "referenceAllele": "A",
          "start": 1389,
          "startIntronDirection": "+",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000517323.2:c.1291+289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430803.2:n.1291+289A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 289,
          "referenceAllele": "A",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519076.5:c.1141+289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428910.1:n.1141+289A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "referenceAllele": "A",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000519674.1:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429174.1:p.Tyr523Cys",
        "hgvsWellDefined": "ENSP00000429174.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "A",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "ENST00000520276.5:c.1580A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428680.1:p.Tyr527Cys",
        "hgvsWellDefined": "ENSP00000428680.1:p.Tyr527Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826672906",
      "coordinates": [
        {
          "allele": "G",
          "end": 1709,
          "referenceAllele": "A",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.2:c.1580A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Tyr527Cys",
        "hgvsWellDefined": "NP_001269831.1:p.Tyr527Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673344",
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "A",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.2:c.1586A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Tyr529Cys",
        "hgvsWellDefined": "NP_001269832.1:p.Tyr529Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485716",
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.4:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Tyr536Cys",
        "hgvsWellDefined": "NP_054831.2:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "A",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_005251049.2:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251106.1:p.Tyr523Cys",
        "hgvsWellDefined": "XP_005251106.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2149,
          "referenceAllele": "A",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_006716625.1:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716688.1:p.Tyr536Cys",
        "hgvsWellDefined": "XP_006716688.1:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2282,
          "referenceAllele": "A",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.1:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Tyr536Cys",
        "hgvsWellDefined": "XP_011515566.1:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2421,
          "referenceAllele": "A",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517265.1:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515567.1:p.Tyr536Cys",
        "hgvsWellDefined": "XP_011515567.1:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "referenceAllele": "A",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.1:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Tyr536Cys",
        "hgvsWellDefined": "XP_011515568.1:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517267.1:c.1586A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515569.1:p.Tyr529Cys",
        "hgvsWellDefined": "XP_011515569.1:p.Tyr529Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2124,
          "referenceAllele": "A",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.1:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Tyr523Cys",
        "hgvsWellDefined": "XP_011515570.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334652",
      "coordinates": [
        {
          "allele": "G",
          "end": 2054,
          "referenceAllele": "A",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.1:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Tyr523Cys",
        "hgvsWellDefined": "NP_001317528.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2353,
          "referenceAllele": "A",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517264.2:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515566.1:p.Tyr536Cys",
        "hgvsWellDefined": "XP_011515566.1:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2021,
          "referenceAllele": "A",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517266.3:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515568.1:p.Tyr536Cys",
        "hgvsWellDefined": "XP_011515568.1:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "referenceAllele": "A",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "XM_011517268.2:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515570.1:p.Tyr523Cys",
        "hgvsWellDefined": "XP_011515570.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826672906",
      "coordinates": [
        {
          "allele": "G",
          "end": 1710,
          "referenceAllele": "A",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.3:c.1580A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269831.1:p.Tyr527Cys",
        "hgvsWellDefined": "NP_001269831.1:p.Tyr527Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826673344",
      "coordinates": [
        {
          "allele": "G",
          "end": 2145,
          "referenceAllele": "A",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282903.3:c.1586A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Tyr529Cys",
        "hgvsWellDefined": "NP_001269832.1:p.Tyr529Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334652",
      "coordinates": [
        {
          "allele": "G",
          "end": 2001,
          "referenceAllele": "A",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.2:c.1568A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Tyr523Cys",
        "hgvsWellDefined": "NP_001317528.1:p.Tyr523Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485716",
      "coordinates": [
        {
          "allele": "G",
          "end": 2159,
          "referenceAllele": "A",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.5:c.1607A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Tyr536Cys",
        "hgvsWellDefined": "NP_054831.2:p.Tyr536Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.1607A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.1607A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Tyr536Cys"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Tyr536Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}