{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1248600993",
  "communityStandardTitle": [
    "NM_000233.4(LHCGR):c.1691A= (p.Asp564=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912540",
        "rs": 121912540
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48688106,
          "referenceAllele": "T",
          "start": 48688105
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48688106T=",
        "CM000664.2:g.48688106T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48915245,
          "referenceAllele": "T",
          "start": 48915244
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48915245T=",
        "CM000664.1:g.48915245T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48768749,
          "referenceAllele": "T",
          "start": 48768748
        }
      ],
      "hgvs": [
        "NC_000002.10:g.48768749T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72636,
          "referenceAllele": "A",
          "start": 72635
        }
      ],
      "hgvs": [
        "NG_008193.1:g.72636A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163182,
          "referenceAllele": "T",
          "start": 163181
        }
      ],
      "hgvs": [
        "NG_033050.1:g.163182T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72636,
          "referenceAllele": "A",
          "start": 72635
        }
      ],
      "hgvs": [
        "NG_008193.2:g.72636A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163182,
          "referenceAllele": "T",
          "start": 163181
        }
      ],
      "hgvs": [
        "NG_033050.2:g.163182T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "A",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.12:c.1691A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Asp564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1691A="
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1691A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Asp564="
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Asp564="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1713,
          "referenceAllele": "A",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.11:c.1691A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Asp564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000401907.5:c.*3A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385406.1:n.*3A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16426,
          "referenceAllele": "T",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "ENST00000402114.6:c.3441+16426T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385701.1:n.3441+16426T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "A",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000403273.5:c.*435A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385847.1:n.*435A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "referenceAllele": "A",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000405626.5:c.1610A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386033.1:p.Asp537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 16426,
          "referenceAllele": "T",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 16425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030727",
      "geneNCBI_id": 11036,
      "geneSymbol": "GTF2A1L",
      "hgvs": [
        "ENST00000508440.1:c.276+16426T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421474.1:n.276+16426T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 6118,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 6117
        }
      ],
      "hgvs": [
        "ENST00000602369.3:c.*220+6118A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473498.1:n.*220+6118A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526524",
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "A",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.3:c.1691A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Asp564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16426,
          "referenceAllele": "T",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.1:c.3441+16426T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16426T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.2:c.734A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Asp245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1713,
          "referenceAllele": "A",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.2:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "A",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532828.1:c.1616A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531130.1:p.Asp539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1483,
          "referenceAllele": "A",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532829.1:c.1430A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531131.1:p.Asp477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "A",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532830.1:c.1349A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531132.1:p.Asp450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "A",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532831.1:c.1055A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531133.1:p.Asp352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "A",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532832.1:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531134.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "A",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532833.1:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531135.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1055,
          "referenceAllele": "A",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.1:c.734A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Asp245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.3:c.734A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Asp245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.3:c.761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "A",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.2:c.734A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Asp245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3263,
          "referenceAllele": "A",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004089.1:c.1436A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859578.1:p.Asp479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "referenceAllele": "A",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004090.1:c.1055A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859579.1:p.Asp352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526524",
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "A",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.4:c.1691A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Asp564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1691A="
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1691A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Asp564="
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Asp564="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16426,
          "referenceAllele": "T",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.2:c.3441+16426T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16426T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713875"
    }
  ],
  "type": "nucleotide"
}