{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129743",
  "communityStandardTitle": [
    "NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40157[alleleid]",
        "alleleId": 40157,
        "preferredName": "NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31200",
        "RCV": [
          "RCV000024199",
          "RCV000059653"
        ],
        "variationId": 31200
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.38334016G>A?assembly=hg38",
        "id": "chr17:g.38334016G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281875234",
        "rs": 281875234
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-38334016-G-A?dataset=gnomad_r4",
        "id": "17-38334016-G-A",
        "variant": "17:38334016 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38334016,
          "referenceAllele": "G",
          "start": 38334015
        }
      ],
      "hgvs": [
        "NC_000017.11:g.38334016G>A",
        "CM000679.2:g.38334016G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 33743425,
          "referenceAllele": "G",
          "start": 33743424
        }
      ],
      "hgvs": [
        "NC_000017.9:g.33743425G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14795,
          "referenceAllele": "C",
          "start": 14794
        }
      ],
      "hgvs": [
        "NG_032655.2:g.14795C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005183"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "ENST00000616987.5:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483469.2:p.His603Tyr",
        "hgvsWellDefined": "ENSP00000483469.2:p.His603Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762091",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000616987.5:c.1807C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001004334.4:c.1807C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483469.2:p.His603Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001004334.3:p.His603Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "ENST00000616987.4:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483469.1:p.His603Tyr",
        "hgvsWellDefined": "ENSP00000483469.1:p.His603Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1831,
          "referenceAllele": "C",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "ENST00000621958.1:c.1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480024.1:p.His604Tyr",
        "hgvsWellDefined": "ENSP00000480024.1:p.His604Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129745",
      "coordinates": [
        {
          "allele": "T",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "NM_001004334.3:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004334.3:p.His603Tyr",
        "hgvsWellDefined": "NP_001004334.3:p.His603Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129745",
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "NM_001004334.4:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004334.3:p.His603Tyr",
        "hgvsWellDefined": "NP_001004334.3:p.His603Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000616987.5:c.1807C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001004334.4:c.1807C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483469.2:p.His603Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001004334.3:p.His603Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}