{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123923",
  "communityStandardTitle": [
    "NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29432[alleleid]",
        "alleleId": 29432,
        "preferredName": "NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14393",
        "RCV": [
          "RCV000015472",
          "RCV003137526",
          "RCV002514103"
        ],
        "variationId": 14393
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-48915089-G-T",
        "id": "2-48915089-G-T",
        "variant": "2:48915089 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48915089G>T?assembly=hg19",
        "id": "chr2:g.48915089G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48687950G>T?assembly=hg38",
        "id": "chr2:g.48687950G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912525",
        "rs": 121912525
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48915089-G-T?dataset=gnomad_r2_1",
        "id": "2-48915089-G-T",
        "variant": "2:48915089 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48687950-G-T?dataset=gnomad_r3",
        "id": "2-48687950-G-T",
        "variant": "2:48687950 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48687950-G-T?dataset=gnomad_r4",
        "id": "2-48687950-G-T",
        "variant": "2:48687950 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48687950,
          "referenceAllele": "G",
          "start": 48687949
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48687950G>T",
        "CM000664.2:g.48687950G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48915089,
          "referenceAllele": "G",
          "start": 48915088
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48915089G>T",
        "CM000664.1:g.48915089G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48768593,
          "referenceAllele": "G",
          "start": 48768592
        }
      ],
      "hgvs": [
        "NC_000002.10:g.48768593G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72792,
          "referenceAllele": "C",
          "start": 72791
        }
      ],
      "hgvs": [
        "NG_008193.1:g.72792C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163026,
          "referenceAllele": "G",
          "start": 163025
        }
      ],
      "hgvs": [
        "NG_033050.1:g.163026G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72792,
          "referenceAllele": "C",
          "start": 72791
        }
      ],
      "hgvs": [
        "NG_008193.2:g.72792C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163026,
          "referenceAllele": "G",
          "start": 163025
        }
      ],
      "hgvs": [
        "NG_033050.2:g.163026G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.12:c.1847C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Ser616Tyr",
        "hgvsWellDefined": "ENSP00000294954.6:p.Ser616Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1847C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1847C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Ser616Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Ser616Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.11:c.1847C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Ser616Tyr",
        "hgvsWellDefined": "ENSP00000294954.6:p.Ser616Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000401907.5:c.*159C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385406.1:n.*159C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16270,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "ENST00000402114.6:c.3441+16270G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385701.1:n.3441+16270G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000403273.5:c.*591C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385847.1:n.*591C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1766,
          "referenceAllele": "C",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000405626.5:c.1766C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386033.1:p.Ser589Tyr",
        "hgvsWellDefined": "ENSP00000386033.1:p.Ser589Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 16270,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 16269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030727",
      "geneNCBI_id": 11036,
      "geneSymbol": "GTF2A1L",
      "hgvs": [
        "ENST00000508440.1:c.276+16270G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421474.1:n.276+16270G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 6274,
          "referenceAllele": "C",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 6273
        }
      ],
      "hgvs": [
        "ENST00000602369.3:c.*220+6274C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473498.1:n.*220+6274C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113092",
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.3:c.1847C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Ser616Tyr",
        "hgvsWellDefined": "NP_000224.2:p.Ser616Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16270,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.1:c.3441+16270G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16270G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.2:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Ser297Tyr",
        "hgvsWellDefined": "XP_005264366.1:p.Ser297Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.2:c.917C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Ser306Tyr",
        "hgvsWellDefined": "XP_006712078.1:p.Ser306Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532828.1:c.1772C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531130.1:p.Ser591Tyr",
        "hgvsWellDefined": "XP_011531130.1:p.Ser591Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532829.1:c.1586C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531131.1:p.Ser529Tyr",
        "hgvsWellDefined": "XP_011531131.1:p.Ser529Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532830.1:c.1505C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531132.1:p.Ser502Tyr",
        "hgvsWellDefined": "XP_011531132.1:p.Ser502Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532831.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531133.1:p.Ser404Tyr",
        "hgvsWellDefined": "XP_011531133.1:p.Ser404Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532832.1:c.917C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531134.1:p.Ser306Tyr",
        "hgvsWellDefined": "XP_011531134.1:p.Ser306Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532833.1:c.917C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531135.1:p.Ser306Tyr",
        "hgvsWellDefined": "XP_011531135.1:p.Ser306Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.1:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Ser297Tyr",
        "hgvsWellDefined": "XP_011531136.1:p.Ser297Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.3:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Ser297Tyr",
        "hgvsWellDefined": "XP_005264366.1:p.Ser297Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "referenceAllele": "C",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.3:c.917C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Ser306Tyr",
        "hgvsWellDefined": "XP_006712078.1:p.Ser306Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "C",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.2:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Ser297Tyr",
        "hgvsWellDefined": "XP_011531136.1:p.Ser297Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004089.1:c.1592C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859578.1:p.Ser531Tyr",
        "hgvsWellDefined": "XP_016859578.1:p.Ser531Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004090.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859579.1:p.Ser404Tyr",
        "hgvsWellDefined": "XP_016859579.1:p.Ser404Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113092",
      "coordinates": [
        {
          "allele": "A",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.4:c.1847C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Ser616Tyr",
        "hgvsWellDefined": "NP_000224.2:p.Ser616Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1847C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1847C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Ser616Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Ser616Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16270,
          "referenceAllele": "G",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.2:c.3441+16270G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16270G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713875"
    }
  ],
  "type": "nucleotide"
}