{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214806",
  "communityStandardTitle": [
    "NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166207[alleleid]",
        "alleleId": 166207,
        "preferredName": "NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156434",
        "RCV": [
          "RCV000144497",
          "RCV000167582",
          "RCV000481050"
        ],
        "variationId": 156434
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-135186833-G-A",
        "id": "10-135186833-G-A",
        "variant": "10:135186833 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.135186833G>A?assembly=hg19",
        "id": "chr10:g.135186833G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.133373329G>A?assembly=hg38",
        "id": "chr10:g.133373329G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776498",
        "rs": 587776498
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-135186833-G-A?dataset=gnomad_r2_1",
        "id": "10-135186833-G-A",
        "variant": "10:135186833 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-133373329-G-A?dataset=gnomad_r3",
        "id": "10-133373329-G-A",
        "variant": "10:133373329 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-133373329-G-A?dataset=gnomad_r4",
        "id": "10-133373329-G-A",
        "variant": "10:133373329 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 133373329,
          "referenceAllele": "G",
          "start": 133373328
        }
      ],
      "hgvs": [
        "NC_000010.11:g.133373329G>A",
        "CM000672.2:g.133373329G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 135186833,
          "referenceAllele": "G",
          "start": 135186832
        }
      ],
      "hgvs": [
        "NC_000010.10:g.135186833G>A",
        "CM000672.1:g.135186833G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 135036823,
          "referenceAllele": "G",
          "start": 135036822
        }
      ],
      "hgvs": [
        "NC_000010.9:g.135036823G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5076,
          "referenceAllele": "C",
          "start": 5075
        }
      ],
      "hgvs": [
        "NG_042077.1:g.5076C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005923"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "ENST00000368547.4:c.5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357535.3:p.Ala2Val",
        "hgvsWellDefined": "ENSP00000357535.3:p.Ala2Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368547.4:c.5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004092.4:c.5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357535.3:p.Ala2Val"
          },
          "RefSeq": {
            "hgvs": "NP_004083.3:p.Ala2Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "ENST00000368547.3:c.5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357535.3:p.Ala2Val",
        "hgvsWellDefined": "ENSP00000357535.3:p.Ala2Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214807",
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "C",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "NM_004092.3:c.5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004083.3:p.Ala2Val",
        "hgvsWellDefined": "NP_004083.3:p.Ala2Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "XR_002956965.1:n.68C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214807",
      "coordinates": [
        {
          "allele": "T",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "NM_004092.4:c.5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004083.3:p.Ala2Val",
        "hgvsWellDefined": "NP_004083.3:p.Ala2Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368547.4:c.5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004092.4:c.5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357535.3:p.Ala2Val"
          },
          "RefSeq": {
            "hgvs": "NP_004083.3:p.Ala2Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}