{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250646",
  "communityStandardTitle": [
    "NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29426[alleleid]",
        "alleleId": 29426,
        "preferredName": "NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14387",
        "RCV": [
          "RCV000015464"
        ],
        "variationId": 14387
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48915309A>G?assembly=hg19",
        "id": "chr2:g.48915309A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48688170A>G?assembly=hg38",
        "id": "chr2:g.48688170A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912537",
        "rs": 121912537
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 48688170,
          "referenceAllele": "A",
          "start": 48688169
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48688170A>G",
        "CM000664.2:g.48688170A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 48915309,
          "referenceAllele": "A",
          "start": 48915308
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48915309A>G",
        "CM000664.1:g.48915309A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 48768813,
          "referenceAllele": "A",
          "start": 48768812
        }
      ],
      "hgvs": [
        "NC_000002.10:g.48768813A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72572,
          "referenceAllele": "T",
          "start": 72571
        }
      ],
      "hgvs": [
        "NG_008193.1:g.72572T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163246,
          "referenceAllele": "A",
          "start": 163245
        }
      ],
      "hgvs": [
        "NG_033050.1:g.163246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72572,
          "referenceAllele": "T",
          "start": 72571
        }
      ],
      "hgvs": [
        "NG_008193.2:g.72572T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163246,
          "referenceAllele": "A",
          "start": 163245
        }
      ],
      "hgvs": [
        "NG_033050.2:g.163246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1680,
          "referenceAllele": "T",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.12:c.1627T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Cys543Arg",
        "hgvsWellDefined": "ENSP00000294954.6:p.Cys543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1627T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1627T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Cys543Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Cys543Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "T",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.11:c.1627T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Cys543Arg",
        "hgvsWellDefined": "ENSP00000294954.6:p.Cys543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1006,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000401907.5:c.948-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385406.1:n.948-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16490,
          "referenceAllele": "A",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "ENST00000402114.6:c.3441+16490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385701.1:n.3441+16490A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000403273.5:c.*371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385847.1:n.*371T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "T",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000405626.5:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386033.1:p.Cys516Arg",
        "hgvsWellDefined": "ENSP00000386033.1:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 16490,
          "referenceAllele": "A",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 16489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030727",
      "geneNCBI_id": 11036,
      "geneSymbol": "GTF2A1L",
      "hgvs": [
        "ENST00000508440.1:c.276+16490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421474.1:n.276+16490A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 6054,
          "referenceAllele": "T",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 6053
        }
      ],
      "hgvs": [
        "ENST00000602369.3:c.*220+6054T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473498.1:n.*220+6054T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112986",
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "T",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.3:c.1627T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Cys543Arg",
        "hgvsWellDefined": "NP_000224.2:p.Cys543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16490,
          "referenceAllele": "A",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.1:c.3441+16490A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16490A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "referenceAllele": "T",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.2:c.670T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Cys224Arg",
        "hgvsWellDefined": "XP_005264366.1:p.Cys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "T",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.2:c.697T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Cys233Arg",
        "hgvsWellDefined": "XP_006712078.1:p.Cys233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "T",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532828.1:c.1552T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531130.1:p.Cys518Arg",
        "hgvsWellDefined": "XP_011531130.1:p.Cys518Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "T",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532829.1:c.1366T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531131.1:p.Cys456Arg",
        "hgvsWellDefined": "XP_011531131.1:p.Cys456Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1338,
          "referenceAllele": "T",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532830.1:c.1285T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531132.1:p.Cys429Arg",
        "hgvsWellDefined": "XP_011531132.1:p.Cys429Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1328,
          "referenceAllele": "T",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532831.1:c.991T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531133.1:p.Cys331Arg",
        "hgvsWellDefined": "XP_011531133.1:p.Cys331Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532832.1:c.697T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531134.1:p.Cys233Arg",
        "hgvsWellDefined": "XP_011531134.1:p.Cys233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "T",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532833.1:c.697T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531135.1:p.Cys233Arg",
        "hgvsWellDefined": "XP_011531135.1:p.Cys233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.1:c.670T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Cys224Arg",
        "hgvsWellDefined": "XP_011531136.1:p.Cys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1423,
          "referenceAllele": "T",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.3:c.670T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Cys224Arg",
        "hgvsWellDefined": "XP_005264366.1:p.Cys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "T",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.3:c.697T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Cys233Arg",
        "hgvsWellDefined": "XP_006712078.1:p.Cys233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.2:c.670T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Cys224Arg",
        "hgvsWellDefined": "XP_011531136.1:p.Cys224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3199,
          "referenceAllele": "T",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004089.1:c.1372T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859578.1:p.Cys458Arg",
        "hgvsWellDefined": "XP_016859578.1:p.Cys458Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1472,
          "referenceAllele": "T",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004090.1:c.991T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859579.1:p.Cys331Arg",
        "hgvsWellDefined": "XP_016859579.1:p.Cys331Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112986",
      "coordinates": [
        {
          "allele": "C",
          "end": 1680,
          "referenceAllele": "T",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.4:c.1627T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Cys543Arg",
        "hgvsWellDefined": "NP_000224.2:p.Cys543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1627T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1627T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Cys543Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Cys543Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16490,
          "referenceAllele": "A",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.2:c.3441+16490A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16490A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713875"
    }
  ],
  "type": "nucleotide"
}