{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5242214",
  "communityStandardTitle": [
    "NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962164[alleleid]",
        "alleleId": 962164,
        "preferredName": "NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/973862",
        "RCV": [
          "RCV001250525",
          "RCV003373088"
        ],
        "variationId": 973862
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-129376843-C-T",
        "id": "9-129376843-C-T",
        "variant": "9:129376843 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.129376843C>T?assembly=hg19",
        "id": "chr9:g.129376843C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.126614564C>T?assembly=hg38",
        "id": "chr9:g.126614564C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771784052",
        "rs": 771784052
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-129376843-C-T?dataset=gnomad_r2_1",
        "id": "9-129376843-C-T",
        "variant": "9:129376843 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-126614564-C-T?dataset=gnomad_r3",
        "id": "9-126614564-C-T",
        "variant": "9:126614564 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-126614564-C-T?dataset=gnomad_r4",
        "id": "9-126614564-C-T",
        "variant": "9:126614564 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 126614564,
          "referenceAllele": "C",
          "start": 126614563
        }
      ],
      "hgvs": [
        "NC_000009.12:g.126614564C>T",
        "CM000671.2:g.126614564C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 129376843,
          "referenceAllele": "C",
          "start": 129376842
        }
      ],
      "hgvs": [
        "NC_000009.11:g.129376843C>T",
        "CM000671.1:g.129376843C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 128416664,
          "referenceAllele": "C",
          "start": 128416663
        }
      ],
      "hgvs": [
        "NC_000009.10:g.128416664C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5122,
          "referenceAllele": "C",
          "start": 5121
        }
      ],
      "hgvs": [
        "NG_017039.1:g.5122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003381"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000355497.10:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347684.5:p.Pro39Ser",
        "hgvsWellDefined": "ENSP00000347684.5:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000373474.9:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362573.3:p.Pro39Ser",
        "hgvsWellDefined": "ENSP00000362573.3:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751236",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373474.9:c.115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001174147.2:c.115C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362573.3:p.Pro39Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001167618.1:p.Pro39Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000526117.6:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436930.1:p.Pro39Ser",
        "hgvsWellDefined": "ENSP00000436930.1:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000355497.9:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347684.5:p.Pro39Ser",
        "hgvsWellDefined": "ENSP00000347684.5:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000373474.8:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362573.3:p.Pro39Ser",
        "hgvsWellDefined": "ENSP00000362573.3:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000526117.5:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436930.1:p.Pro39Ser",
        "hgvsWellDefined": "ENSP00000436930.1:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "ENST00000561065.1:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453580.1:p.Pro16Ser",
        "hgvsWellDefined": "ENSP00000453580.1:p.Pro16Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826111663",
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NM_001174146.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167617.1:p.Pro39Ser",
        "hgvsWellDefined": "NP_001167617.1:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826111889",
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NM_001174147.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167618.1:p.Pro39Ser",
        "hgvsWellDefined": "NP_001167618.1:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717963",
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NM_002316.3:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002307.2:p.Pro39Ser",
        "hgvsWellDefined": "NP_002307.2:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826111663",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NM_001174146.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167617.1:p.Pro39Ser",
        "hgvsWellDefined": "NP_001167617.1:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826111889",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NM_001174147.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167618.1:p.Pro39Ser",
        "hgvsWellDefined": "NP_001167618.1:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678869",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373474.9:c.115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001174147.2:c.115C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362573.3:p.Pro39Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001167618.1:p.Pro39Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717963",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NM_002316.4:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002307.2:p.Pro39Ser",
        "hgvsWellDefined": "NP_002307.2:p.Pro39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695511"
    }
  ],
  "type": "nucleotide"
}