{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2346680056",
  "communityStandardTitle": [
    "NM_025220.5(ADAM33):c.815C= (p.Thr272=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41534847",
        "rs": 41534847
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3673835,
          "referenceAllele": "G",
          "start": 3673834
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3673835G=",
        "CM000682.2:g.3673835G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3654482,
          "referenceAllele": "G",
          "start": 3654481
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3654482G=",
        "CM000682.1:g.3654482G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3602482,
          "referenceAllele": "G",
          "start": 3602481
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3602482G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000356518.7:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348912.3:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356518.7:c.815C="
          },
          "RefSeq": {
            "hgvs": "NM_025220.5:c.815C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348912.3:p.Thr272="
          },
          "RefSeq": {
            "hgvs": "NP_079496.1:p.Thr272="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000350009.6:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322550.5:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000356518.6:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348912.2:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000379861.8:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369190.4:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "endIntronDirection": "+",
          "endIntronOffset": 477,
          "referenceAllele": "C",
          "start": 1095,
          "startIntronDirection": "+",
          "startIntronOffset": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000617732.1:c.*631+477C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483343.1:n.*631+477C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 933,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000619289.4:c.806+9C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484600.1:n.806+9C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_001282447.1:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269376.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087696647",
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_025220.3:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_079496.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_153202.2:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_694882.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_005260843.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260900.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_006723639.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723702.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_006723640.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723703.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_006723644.2:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723707.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529366.1:c.851C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527668.1:p.Thr284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529367.1:c.812C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527669.1:p.Thr271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529368.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527670.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529369.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527671.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529370.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527672.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529371.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527673.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529372.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527674.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529373.1:c.-226C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527675.1:n.-226C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937151.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937152.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937153.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937154.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937155.1:n.879C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937157.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_001282447.2:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269376.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087696647",
      "coordinates": [
        {
          "allele": "C",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_025220.4:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_079496.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_153202.3:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_694882.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529371.2:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527673.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529373.2:c.-226C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527675.1:n.-226C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_017028080.2:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883569.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_017028081.2:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883570.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_017028082.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883571.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_017028083.1:c.854C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883572.1:p.Thr285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_001754405.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_002958534.1:n.958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_001282447.3:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269376.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087696647",
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_025220.5:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_079496.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356518.7:c.815C="
          },
          "RefSeq": {
            "hgvs": "NM_025220.5:c.815C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348912.3:p.Thr272="
          },
          "RefSeq": {
            "hgvs": "NP_079496.1:p.Thr272="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_153202.4:c.815C="
      ],
      "proteinEffect": {
        "hgvs": "NP_694882.1:p.Thr272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700319"
    }
  ],
  "type": "nucleotide"
}