{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214801",
  "communityStandardTitle": [
    "NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185751[alleleid]",
        "alleleId": 185751,
        "preferredName": "NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187859",
        "RCV": [
          "RCV000167579"
        ],
        "variationId": 187859
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.135182468G>T?assembly=hg19",
        "id": "chr10:g.135182468G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.133368964G>T?assembly=hg38",
        "id": "chr10:g.133368964G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204001",
        "rs": 786204001
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-133368964-G-T?dataset=gnomad_r4",
        "id": "10-133368964-G-T",
        "variant": "10:133368964 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 133368964,
          "referenceAllele": "G",
          "start": 133368963
        }
      ],
      "hgvs": [
        "NC_000010.11:g.133368964G>T",
        "CM000672.2:g.133368964G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 135182468,
          "referenceAllele": "G",
          "start": 135182467
        }
      ],
      "hgvs": [
        "NC_000010.10:g.135182468G>T",
        "CM000672.1:g.135182468G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 135032458,
          "referenceAllele": "G",
          "start": 135032457
        }
      ],
      "hgvs": [
        "NC_000010.9:g.135032458G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9441,
          "referenceAllele": "C",
          "start": 9440
        }
      ],
      "hgvs": [
        "NG_042077.1:g.9441C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005923"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "ENST00000368547.4:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357535.3:p.Ala158Asp",
        "hgvsWellDefined": "ENSP00000357535.3:p.Ala158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368547.4:c.473C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004092.4:c.473C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357535.3:p.Ala158Asp"
          },
          "RefSeq": {
            "hgvs": "NP_004083.3:p.Ala158Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "ENST00000368547.3:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357535.3:p.Ala158Asp",
        "hgvsWellDefined": "ENSP00000357535.3:p.Ala158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214802",
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "NM_004092.3:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004083.3:p.Ala158Asp",
        "hgvsWellDefined": "NP_004083.3:p.Ala158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "XR_002956965.1:n.536C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214802",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "NM_004092.4:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004083.3:p.Ala158Asp",
        "hgvsWellDefined": "NP_004083.3:p.Ala158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368547.4:c.473C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004092.4:c.473C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357535.3:p.Ala158Asp"
          },
          "RefSeq": {
            "hgvs": "NP_004083.3:p.Ala158Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}