{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115347",
  "communityStandardTitle": [
    "NM_015335.5(MED13L):c.5615G>A (p.Arg1872His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17146[alleleid]",
        "alleleId": 17146,
        "preferredName": "NM_015335.5(MED13L):c.5615G>A (p.Arg1872His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2107",
        "RCV": [
          "RCV000002188"
        ],
        "variationId": 2107
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.116413092C>T?assembly=hg19",
        "id": "chr12:g.116413092C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.115975287C>T?assembly=hg38",
        "id": "chr12:g.115975287C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940310",
        "rs": 28940310
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-115975287-C-T?dataset=gnomad_r3",
        "id": "12-115975287-C-T",
        "variant": "12:115975287 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-115975287-C-T?dataset=gnomad_r4",
        "id": "12-115975287-C-T",
        "variant": "12:115975287 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 115975287,
          "referenceAllele": "C",
          "start": 115975286
        }
      ],
      "hgvs": [
        "NC_000012.12:g.115975287C>T",
        "CM000674.2:g.115975287C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 116413092,
          "referenceAllele": "C",
          "start": 116413091
        }
      ],
      "hgvs": [
        "NC_000012.11:g.116413092C>T",
        "CM000674.1:g.116413092C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 114897475,
          "referenceAllele": "C",
          "start": 114897474
        }
      ],
      "hgvs": [
        "NC_000012.10:g.114897475C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306900,
          "referenceAllele": "G",
          "start": 306899
        }
      ],
      "hgvs": [
        "NG_023366.1:g.306900G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003822"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6177,
          "referenceAllele": "G",
          "start": 6176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000281928.9:c.5615G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281928.3:p.Arg1872His",
        "hgvsWellDefined": "ENSP00000281928.3:p.Arg1872His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281928.9:c.5615G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015335.5:c.5615G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281928.3:p.Arg1872His"
          },
          "RefSeq": {
            "hgvs": "NP_056150.1:p.Arg1872His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000548694.2:n.605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3983,
          "referenceAllele": "G",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000648379.1:n.3983G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5379,
          "referenceAllele": "G",
          "start": 5378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000648737.1:n.5379G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000648825.1:n.3800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000648916.1:n.3626G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3799,
          "referenceAllele": "G",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000649607.1:c.3799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2104,
          "referenceAllele": "G",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000649775.1:c.2104G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5694,
          "referenceAllele": "G",
          "start": 5693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000650226.1:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496981.1:p.Arg1884His",
        "hgvsWellDefined": "ENSP00000496981.1:p.Arg1884His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5822,
          "referenceAllele": "G",
          "start": 5821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000281928.7:c.5615G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281928.3:p.Arg1872His",
        "hgvsWellDefined": "ENSP00000281928.3:p.Arg1872His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000548694.1:n.605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "ENST00000552447.1:c.228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097725",
      "coordinates": [
        {
          "allele": "A",
          "end": 5670,
          "referenceAllele": "G",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "NM_015335.4:c.5615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056150.1:p.Arg1872His",
        "hgvsWellDefined": "NP_056150.1:p.Arg1872His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5723,
          "referenceAllele": "G",
          "start": 5722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_011538080.1:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536382.1:p.Arg1884His",
        "hgvsWellDefined": "XP_011536382.1:p.Arg1884His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5720,
          "referenceAllele": "G",
          "start": 5719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_011538081.1:c.5648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536383.1:p.Arg1883His",
        "hgvsWellDefined": "XP_011536383.1:p.Arg1883His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5909,
          "referenceAllele": "G",
          "start": 5908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_011538082.1:c.5621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536384.1:p.Arg1874His",
        "hgvsWellDefined": "XP_011536384.1:p.Arg1874His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5739,
          "referenceAllele": "G",
          "start": 5738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_011538080.2:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536382.1:p.Arg1884His",
        "hgvsWellDefined": "XP_011536382.1:p.Arg1884His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5736,
          "referenceAllele": "G",
          "start": 5735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_011538081.2:c.5648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536383.1:p.Arg1883His",
        "hgvsWellDefined": "XP_011536383.1:p.Arg1883His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5909,
          "referenceAllele": "G",
          "start": 5908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_011538082.2:c.5621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536384.1:p.Arg1874His",
        "hgvsWellDefined": "XP_011536384.1:p.Arg1874His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5700,
          "referenceAllele": "G",
          "start": 5699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "XM_017019090.1:c.5612G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874579.1:p.Arg1871His",
        "hgvsWellDefined": "XP_016874579.1:p.Arg1871His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097725",
      "coordinates": [
        {
          "allele": "A",
          "end": 6177,
          "referenceAllele": "G",
          "start": 6176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "NM_015335.5:c.5615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056150.1:p.Arg1872His",
        "hgvsWellDefined": "NP_056150.1:p.Arg1872His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281928.9:c.5615G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015335.5:c.5615G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281928.3:p.Arg1872His"
          },
          "RefSeq": {
            "hgvs": "NP_056150.1:p.Arg1872His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}