{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2092660",
  "communityStandardTitle": [
    "NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=366171[alleleid]",
        "alleleId": 366171,
        "preferredName": "NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/388614",
        "RCV": [
          "RCV000422417",
          "RCV002502566"
        ],
        "variationId": 388614
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-215976353-G-A",
        "id": "2-215976353-G-A",
        "variant": "2:215976353 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215976353G>A?assembly=hg19",
        "id": "chr2:g.215976353G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215111630G>A?assembly=hg38",
        "id": "chr2:g.215111630G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201542666",
        "rs": 201542666
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215976353-G-A?dataset=gnomad_r2_1",
        "id": "2-215976353-G-A",
        "variant": "2:215976353 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215111630-G-A?dataset=gnomad_r3",
        "id": "2-215111630-G-A",
        "variant": "2:215111630 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215111630-G-A?dataset=gnomad_r4",
        "id": "2-215111630-G-A",
        "variant": "2:215111630 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 215111630,
          "referenceAllele": "G",
          "start": 215111629
        }
      ],
      "hgvs": [
        "NC_000002.12:g.215111630G>A",
        "CM000664.2:g.215111630G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 215976353,
          "referenceAllele": "G",
          "start": 215976352
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215976353G>A",
        "CM000664.1:g.215976353G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 215684598,
          "referenceAllele": "G",
          "start": 215684597
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215684598G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31799,
          "referenceAllele": "C",
          "start": 31798
        }
      ],
      "hgvs": [
        "NG_007074.1:g.31799C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000454"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.12:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Arg44Trp",
        "hgvsWellDefined": "ENSP00000272895.7:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Arg44Trp"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Arg44Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.11:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Arg44Trp",
        "hgvsWellDefined": "ENSP00000272895.7:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000412081.1:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400231.1:p.Arg44Trp",
        "hgvsWellDefined": "ENSP00000400231.1:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645439355",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.2:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Arg44Trp",
        "hgvsWellDefined": "NP_775099.2:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.1:n.350C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.1:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Arg44Trp",
        "hgvsWellDefined": "XP_011509253.1:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510952.1:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509254.1:p.Arg44Trp",
        "hgvsWellDefined": "XP_011509254.1:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.2:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Arg44Trp",
        "hgvsWellDefined": "XP_011509253.1:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645439355",
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.3:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Arg44Trp",
        "hgvsWellDefined": "NP_775099.2:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Arg44Trp"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Arg44Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.2:n.548C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702874"
    }
  ],
  "type": "nucleotide"
}