{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA796391",
  "communityStandardTitle": [
    "NM_001394311.1(SCMH1):c.967C>T (p.Pro323Ser)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-41540902-G-A",
        "id": "1-41540902-G-A",
        "variant": "1:41540902 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.41540902G>A?assembly=hg19",
        "id": "chr1:g.41540902G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.41075230G>A?assembly=hg38",
        "id": "chr1:g.41075230G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143365597",
        "rs": 143365597
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-41540902-G-A?dataset=gnomad_r2_1",
        "id": "1-41540902-G-A",
        "variant": "1:41540902 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-41075230-G-A?dataset=gnomad_r3",
        "id": "1-41075230-G-A",
        "variant": "1:41075230 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-41075230-G-A?dataset=gnomad_r4",
        "id": "1-41075230-G-A",
        "variant": "1:41075230 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 41075230,
          "referenceAllele": "G",
          "start": 41075229
        }
      ],
      "hgvs": [
        "NC_000001.11:g.41075230G>A",
        "CM000663.2:g.41075230G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 41540902,
          "referenceAllele": "G",
          "start": 41540901
        }
      ],
      "hgvs": [
        "NC_000001.10:g.41540902G>A",
        "CM000663.1:g.41540902G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 41313489,
          "referenceAllele": "G",
          "start": 41313488
        }
      ],
      "hgvs": [
        "NC_000001.9:g.41313489G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000695335.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000511813.1:p.Pro323Ser",
        "hgvsWellDefined": "ENSP00000511813.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000695335.1:c.967C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001394311.1:c.967C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000511813.1:p.Pro323Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001381240.1:p.Pro323Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 814,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000695336.1:c.746-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000511814.1:n.746-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000695337.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000511815.1:p.Pro313Ser",
        "hgvsWellDefined": "ENSP00000511815.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000326197.11:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318094.7:p.Pro313Ser",
        "hgvsWellDefined": "ENSP00000318094.7:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000337495.9:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337352.5:p.Pro323Ser",
        "hgvsWellDefined": "ENSP00000337352.5:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000361191.9:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354656.5:p.Pro252Ser",
        "hgvsWellDefined": "ENSP00000354656.5:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000361705.7:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354996.3:p.Pro266Ser",
        "hgvsWellDefined": "ENSP00000354996.3:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000372595.5:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361676.1:p.Pro252Ser",
        "hgvsWellDefined": "ENSP00000361676.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000372596.5:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361677.1:p.Pro252Ser",
        "hgvsWellDefined": "ENSP00000361677.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000372597.5:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361678.1:p.Pro266Ser",
        "hgvsWellDefined": "ENSP00000361678.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000397171.6:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380356.2:p.Pro252Ser",
        "hgvsWellDefined": "ENSP00000380356.2:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000397174.6:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380359.3:p.Pro313Ser",
        "hgvsWellDefined": "ENSP00000380359.3:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000402904.6:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386079.3:p.Pro252Ser",
        "hgvsWellDefined": "ENSP00000386079.3:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "ENST00000456518.3:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403974.2:p.Pro155Ser",
        "hgvsWellDefined": "ENSP00000403974.2:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001031694.2:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026864.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001026864.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172218.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165689.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001165689.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172219.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165690.1:p.Pro323Ser",
        "hgvsWellDefined": "NP_001165690.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172220.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165691.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001165691.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172221.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165692.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001165692.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172222.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165693.1:p.Pro155Ser",
        "hgvsWellDefined": "NP_001165693.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063947159",
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_012236.3:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036368.1:p.Pro266Ser",
        "hgvsWellDefined": "NP_036368.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_006710462.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710525.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_006710525.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_006710464.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710527.1:p.Pro252Ser",
        "hgvsWellDefined": "XP_006710527.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_006710469.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710532.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_006710532.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_006710470.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710533.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_006710533.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541032.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539334.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539334.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541033.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539335.1:p.Pro313Ser",
        "hgvsWellDefined": "XP_011539335.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541034.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539336.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539336.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541035.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539337.1:p.Pro266Ser",
        "hgvsWellDefined": "XP_011539337.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541036.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539338.1:p.Pro252Ser",
        "hgvsWellDefined": "XP_011539338.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541037.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539339.1:p.Pro252Ser",
        "hgvsWellDefined": "XP_011539339.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541038.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539340.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539340.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541039.1:c.746-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539341.1:n.746-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541040.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539342.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539342.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541041.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539343.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539343.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541042.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539344.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539344.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541043.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539345.1:p.Pro145Ser",
        "hgvsWellDefined": "XP_011539345.1:p.Pro145Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541044.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539346.1:p.Pro145Ser",
        "hgvsWellDefined": "XP_011539346.1:p.Pro145Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541045.1:c.586C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539347.1:p.Pro196Ser",
        "hgvsWellDefined": "XP_011539347.1:p.Pro196Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_426594.2:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_426595.2:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_946584.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_946585.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_946586.1:n.1148C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_946587.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172222.2:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165693.1:p.Pro155Ser",
        "hgvsWellDefined": "NP_001165693.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001350667.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337596.1:p.Pro222Ser",
        "hgvsWellDefined": "NP_001337596.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "referenceAllele": "C",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001350668.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337597.1:p.Pro145Ser",
        "hgvsWellDefined": "NP_001337597.1:p.Pro145Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NR_135092.1:n.1306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541032.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539334.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539334.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541033.2:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539335.1:p.Pro313Ser",
        "hgvsWellDefined": "XP_011539335.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541035.2:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539337.1:p.Pro266Ser",
        "hgvsWellDefined": "XP_011539337.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541036.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539338.1:p.Pro252Ser",
        "hgvsWellDefined": "XP_011539338.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541040.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539342.1:p.Pro323Ser",
        "hgvsWellDefined": "XP_011539342.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_011541043.2:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539345.1:p.Pro145Ser",
        "hgvsWellDefined": "XP_011539345.1:p.Pro145Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000698.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856187.1:p.Pro293Ser",
        "hgvsWellDefined": "XP_016856187.1:p.Pro293Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000699.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856188.1:p.Pro252Ser",
        "hgvsWellDefined": "XP_016856188.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000700.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856189.1:p.Pro266Ser",
        "hgvsWellDefined": "XP_016856189.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000702.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856191.1:p.Pro222Ser",
        "hgvsWellDefined": "XP_016856191.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000703.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856192.1:p.Pro222Ser",
        "hgvsWellDefined": "XP_016856192.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000708.1:c.533-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856197.1:n.533-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000711.1:c.533-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856200.1:n.533-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000712.1:c.533-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856201.1:n.533-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 891,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_017000713.2:c.443-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856202.1:n.443-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_024454203.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309971.1:p.Pro222Ser",
        "hgvsWellDefined": "XP_024309971.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_024454204.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309972.1:p.Pro222Ser",
        "hgvsWellDefined": "XP_024309972.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XM_024454206.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309974.1:p.Pro222Ser",
        "hgvsWellDefined": "XP_024309974.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_001737045.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_001737046.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_001737051.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_001737052.1:n.1118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_001737053.1:n.1317C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_001737054.1:n.1118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_002959757.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_002959760.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_002959761.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_002959762.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_002959763.1:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "XR_946584.2:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172218.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165689.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001165689.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172219.2:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165690.1:p.Pro323Ser",
        "hgvsWellDefined": "NP_001165690.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172220.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165691.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001165691.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001350667.2:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337596.1:p.Pro222Ser",
        "hgvsWellDefined": "NP_001337596.1:p.Pro222Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063947159",
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_012236.4:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036368.1:p.Pro266Ser",
        "hgvsWellDefined": "NP_036368.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001031694.3:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026864.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001026864.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1533,
          "referenceAllele": "C",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172221.3:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165692.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001165692.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001172222.3:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165693.1:p.Pro155Ser",
        "hgvsWellDefined": "NP_001165693.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001350668.2:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337597.1:p.Pro145Ser",
        "hgvsWellDefined": "NP_001337597.1:p.Pro145Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "referenceAllele": "C",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394299.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381228.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381228.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "referenceAllele": "C",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394300.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381229.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381229.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394301.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381230.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381230.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394302.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381231.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381231.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394303.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381232.1:p.Pro252Ser",
        "hgvsWellDefined": "NP_001381232.1:p.Pro252Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394304.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381233.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381233.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394305.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381234.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381234.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394306.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381235.1:p.Pro313Ser",
        "hgvsWellDefined": "NP_001381235.1:p.Pro313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394307.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381236.1:p.Pro266Ser",
        "hgvsWellDefined": "NP_001381236.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "endIntronDirection": "-",
          "endIntronOffset": 26339,
          "referenceAllele": "C",
          "start": 1110,
          "startIntronDirection": "-",
          "startIntronOffset": 26340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394308.1:c.746-26340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381237.1:n.746-26340C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394309.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381238.1:p.Pro145Ser",
        "hgvsWellDefined": "NP_001381238.1:p.Pro145Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NM_001394311.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381240.1:p.Pro323Ser",
        "hgvsWellDefined": "NP_001381240.1:p.Pro323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000695335.1:c.967C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001394311.1:c.967C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000511813.1:p.Pro323Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001381240.1:p.Pro323Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019003",
      "geneNCBI_id": 22955,
      "geneSymbol": "SCMH1",
      "hgvs": [
        "NR_135092.2:n.1684C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730907"
    }
  ],
  "type": "nucleotide"
}