{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA423431758",
  "communityStandardTitle": [
    "NM_001164688.2(RD3):c.537G>T (p.Pro179=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1597562[alleleid]",
        "alleleId": 1597562,
        "preferredName": "NM_001164688.2(RD3):c.537G>T (p.Pro179=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1631760",
        "RCV": [
          "RCV002114816"
        ],
        "variationId": 1631760
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.211652429C>A?assembly=hg19",
        "id": "chr1:g.211652429C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759768016",
        "rs": 759768016
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-211479087-C-A?dataset=gnomad_r4",
        "id": "1-211479087-C-A",
        "variant": "1:211479087 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 211479087,
          "referenceAllele": "C",
          "start": 211479086
        }
      ],
      "hgvs": [
        "NC_000001.11:g.211479087C>A",
        "CM000663.2:g.211479087C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 211652429,
          "referenceAllele": "C",
          "start": 211652428
        }
      ],
      "hgvs": [
        "NC_000001.10:g.211652429C>A",
        "CM000663.1:g.211652429C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209719052,
          "referenceAllele": "C",
          "start": 209719051
        }
      ],
      "hgvs": [
        "NC_000001.9:g.209719052C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18831,
          "referenceAllele": "G",
          "start": 18830
        }
      ],
      "hgvs": [
        "NG_013042.1:g.18831G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002686"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000367002.5:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355969.4:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000680073.1:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505312.1:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779694",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000680073.1:c.537G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164688.2:c.537G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505312.1:p.Pro179="
          },
          "RefSeq": {
            "hgvs": "NP_001158160.1:p.Pro179="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000367002.4:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355969.4:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000484910.1:n.505G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000505",
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "G",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_001164688.1:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158160.1:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830409413",
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_183059.2:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898882.1:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "XM_011509479.1:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507781.1:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "XM_017001151.1:c.573G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856640.1:p.Pro191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830409413",
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_183059.3:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898882.1:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000505",
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_001164688.2:c.537G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158160.1:p.Pro179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713116",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000680073.1:c.537G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164688.2:c.537G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505312.1:p.Pro179="
          },
          "RefSeq": {
            "hgvs": "NP_001158160.1:p.Pro179="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}