{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2119370",
  "communityStandardTitle": [
    "NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1292278[alleleid]",
        "alleleId": 1292278,
        "preferredName": "NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301996",
        "RCV": [
          "RCV001733860",
          "RCV001733862",
          "RCV001733861",
          "RCV001733863",
          "RCV002073995",
          "RCV003913358"
        ],
        "variationId": 1301996
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-220078652-C-T",
        "id": "2-220078652-C-T",
        "variant": "2:220078652 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220078652C>T?assembly=hg19",
        "id": "chr2:g.220078652C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219213930C>T?assembly=hg38",
        "id": "chr2:g.219213930C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147445258",
        "rs": 147445258
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-220078652-C-T?dataset=gnomad_r2_1",
        "id": "2-220078652-C-T",
        "variant": "2:220078652 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219213930-C-T?dataset=gnomad_r3",
        "id": "2-219213930-C-T",
        "variant": "2:219213930 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219213930-C-T?dataset=gnomad_r4",
        "id": "2-219213930-C-T",
        "variant": "2:219213930 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219213930,
          "referenceAllele": "C",
          "start": 219213929
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219213930C>T",
        "CM000664.2:g.219213930C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220078652,
          "referenceAllele": "C",
          "start": 220078651
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220078652C>T",
        "CM000664.1:g.220078652C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219786896,
          "referenceAllele": "C",
          "start": 219786895
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219786896C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10061,
          "referenceAllele": "G",
          "start": 10060
        }
      ],
      "hgvs": [
        "NG_032110.1:g.10061G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005126"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000265316.9:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265316.3:p.Ala492Thr",
        "hgvsWellDefined": "ENSP00000265316.3:p.Ala492Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265316.9:c.1474G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005689.4:c.1474G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265316.3:p.Ala492Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005680.1:p.Ala492Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1657,
          "referenceAllele": "G",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000295750.5:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295750.5:p.Ala446Thr",
        "hgvsWellDefined": "ENSP00000295750.5:p.Ala446Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000265316.7:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265316.3:p.Ala492Thr",
        "hgvsWellDefined": "ENSP00000265316.3:p.Ala492Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000295750.4:c.1017G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS254150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4199,
          "referenceAllele": "G",
          "start": 4198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022408",
      "geneNCBI_id": 79065,
      "geneSymbol": "ATG9A",
      "hgvs": [
        "ENST00000446716.5:c.4199G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000448398.5:c.550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000494639.5:n.383G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000496984.5:n.675G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "ENST00000497882.5:n.1787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573087461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NM_005689.2:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005680.1:p.Ala492Thr",
        "hgvsWellDefined": "NP_005680.1:p.Ala492Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827513921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NM_001349828.1:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336757.1:p.Ala446Thr",
        "hgvsWellDefined": "NP_001336757.1:p.Ala446Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573087461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NM_005689.3:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005680.1:p.Ala492Thr",
        "hgvsWellDefined": "NP_005680.1:p.Ala492Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573087461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NM_005689.4:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005680.1:p.Ala492Thr",
        "hgvsWellDefined": "NP_005680.1:p.Ala492Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265316.9:c.1474G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005689.4:c.1474G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265316.3:p.Ala492Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005680.1:p.Ala492Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827513921",
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NM_001349828.2:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336757.1:p.Ala446Thr",
        "hgvsWellDefined": "NP_001336757.1:p.Ala446Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688108"
    }
  ],
  "type": "nucleotide"
}