{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA296700786",
  "communityStandardTitle": [
    "NM_006796.3(AFG3L2):c.1540C>T (p.Pro514Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415596[alleleid]",
        "alleleId": 415596,
        "preferredName": "NM_006796.3(AFG3L2):c.1540C>T (p.Pro514Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427103",
        "RCV": [
          "RCV000489336"
        ],
        "variationId": 427103
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.12351096G>A?assembly=hg19",
        "id": "chr18:g.12351096G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.12351097G>A?assembly=hg38",
        "id": "chr18:g.12351097G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1005670966",
        "rs": 1005670966
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-12351097-G-A?dataset=gnomad_r4",
        "id": "18-12351097-G-A",
        "variant": "18:12351097 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 12351097,
          "referenceAllele": "G",
          "start": 12351096
        }
      ],
      "hgvs": [
        "NC_000018.10:g.12351097G>A",
        "CM000680.2:g.12351097G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 12351096,
          "referenceAllele": "G",
          "start": 12351095
        }
      ],
      "hgvs": [
        "NC_000018.9:g.12351096G>A",
        "CM000680.1:g.12351096G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 12341096,
          "referenceAllele": "G",
          "start": 12341095
        }
      ],
      "hgvs": [
        "NC_000018.8:g.12341096G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31180,
          "referenceAllele": "C",
          "start": 31179
        }
      ],
      "hgvs": [
        "NG_023361.1:g.31180C>T",
        "LRG_666:g.31180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687337.1:c.*1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508998.1:n.*1136C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000688199.1:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510237.1:p.Pro468Ser",
        "hgvsWellDefined": "ENSP00000510237.1:p.Pro468Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691179.1:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509010.1:p.Pro489Ser",
        "hgvsWellDefined": "ENSP00000509010.1:p.Pro489Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691970.1:c.*917C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508440.1:n.*917C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692497.1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509870.1:p.Pro514Ser",
        "hgvsWellDefined": "ENSP00000509870.1:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692988.1:n.1358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.8:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Pro514Ser",
        "hgvsWellDefined": "ENSP00000269143.2:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743090",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.1540C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.1540C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Pro514Ser"
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Pro514Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.7:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Pro514Ser",
        "hgvsWellDefined": "ENSP00000269143.2:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482906",
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.2:c.1540C>T",
        "LRG_666t1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Pro514Ser",
        "hgvsWellDefined": "NP_006787.2:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1767,
          "referenceAllele": "C",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:p.Pro514Ser",
        "hgvsWellDefined": "XP_011523903.1:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1767,
          "referenceAllele": "C",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.3:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:p.Pro514Ser",
        "hgvsWellDefined": "XP_011523903.1:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482906",
      "coordinates": [
        {
          "allele": "T",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.3:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Pro514Ser",
        "hgvsWellDefined": "NP_006787.2:p.Pro514Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696819",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.1540C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.1540C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Pro514Ser"
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Pro514Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}