{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210285",
  "communityStandardTitle": [
    "NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214373[alleleid]",
        "alleleId": 214373,
        "preferredName": "NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217557",
        "RCV": [
          "RCV000201607",
          "RCV002265682"
        ],
        "variationId": 217557
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-41863909-A-G",
        "id": "19-41863909-A-G",
        "variant": "19:41863909 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41863909A>G?assembly=hg19",
        "id": "chr19:g.41863909A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41358004A>G?assembly=hg38",
        "id": "chr19:g.41358004A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757863670",
        "rs": 757863670
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41863909-A-G?dataset=gnomad_r2_1",
        "id": "19-41863909-A-G",
        "variant": "19:41863909 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41358004-A-G?dataset=gnomad_r4",
        "id": "19-41358004-A-G",
        "variant": "19:41358004 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41358004,
          "referenceAllele": "A",
          "start": 41358003
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41358004A>G",
        "CM000681.2:g.41358004A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41863909,
          "referenceAllele": "A",
          "start": 41863908
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41863909A>G",
        "CM000681.1:g.41863909A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46555749,
          "referenceAllele": "A",
          "start": 46555748
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46555749A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11170,
          "referenceAllele": "T",
          "start": 11169
        }
      ],
      "hgvs": [
        "NG_013091.1:g.11170T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "T",
          "start": 922
        }
      ],
      "hgvs": [
        "NG_013364.1:g.923T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000243578.8:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243578.2:p.Leu36Pro",
        "hgvsWellDefined": "ENSP00000243578.2:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243578.8:c.107T>C"
          },
          "RefSeq": {
            "hgvs": "NM_030578.4:c.107T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243578.2:p.Leu36Pro"
          },
          "RefSeq": {
            "hgvs": "NP_085055.2:p.Leu36Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278,
          "referenceAllele": "T",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000675972.1:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501911.1:p.Leu36Pro",
        "hgvsWellDefined": "ENSP00000501911.1:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000243578.7:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243578.2:p.Leu36Pro",
        "hgvsWellDefined": "ENSP00000243578.2:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 6802,
          "referenceAllele": "A",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 6801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032393",
      "geneNCBI_id": 641649,
      "geneSymbol": "TMEM91",
      "hgvs": [
        "ENST00000539627.5:c.-30+6802A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441900.1:n.-30+6802A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000594416.1:c.202T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469666.1:p.Cys68Arg",
        "hgvsWellDefined": "ENSP00000469666.1:p.Cys68Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 3689,
          "referenceAllele": "A",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032393",
      "geneNCBI_id": 641649,
      "geneSymbol": "TMEM91",
      "hgvs": [
        "ENST00000604123.5:c.142+3689A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474871.1:n.142+3689A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 6802,
          "referenceAllele": "A",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 6801
        }
      ],
      "hgvs": [
        "ENST00000604424.1:n.350+6802A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210286",
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "NM_030578.3:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_085055.2:p.Leu36Pro",
        "hgvsWellDefined": "NP_085055.2:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 2990,
          "referenceAllele": "T",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_006723405.1:c.89-2991T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723468.1:n.89-2991T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527349.1:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525651.1:p.Leu36Pro",
        "hgvsWellDefined": "XP_011525651.1:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "T",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527350.1:c.-53T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525652.1:n.-53T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278,
          "referenceAllele": "T",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527349.2:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525651.1:p.Leu36Pro",
        "hgvsWellDefined": "XP_011525651.1:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "T",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527350.2:c.-53T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525652.1:n.-53T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210286",
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "NM_030578.4:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_085055.2:p.Leu36Pro",
        "hgvsWellDefined": "NP_085055.2:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243578.8:c.107T>C"
          },
          "RefSeq": {
            "hgvs": "NM_030578.4:c.107T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243578.2:p.Leu36Pro"
          },
          "RefSeq": {
            "hgvs": "NP_085055.2:p.Leu36Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}