{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278645448",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426952[alleleid]",
        "alleleId": 426952,
        "preferredName": "NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433266",
        "RCV": [
          "RCV000499091",
          "RCV001857040"
        ],
        "variationId": 433266
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16272818A>T?assembly=hg19",
        "id": "chr16:g.16272818A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16178961A>T?assembly=hg38",
        "id": "chr16:g.16178961A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72653786",
        "rs": 72653786
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16272818-A-T?dataset=gnomad_r2_1",
        "id": "16-16272818-A-T",
        "variant": "16:16272818 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16178961-A-T?dataset=gnomad_r3",
        "id": "16-16178961-A-T",
        "variant": "16:16178961 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16178961-A-T?dataset=gnomad_r4",
        "id": "16-16178961-A-T",
        "variant": "16:16178961 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16178961,
          "referenceAllele": "A",
          "start": 16178960
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16178961A>T",
        "CM000678.2:g.16178961A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16272818,
          "referenceAllele": "A",
          "start": 16272817
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16272818A>T",
        "CM000678.1:g.16272818A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16180319,
          "referenceAllele": "A",
          "start": 16180318
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16180319A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49511,
          "referenceAllele": "T",
          "start": 49510
        }
      ],
      "hgvs": [
        "NG_007558.2:g.49511T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49657,
          "referenceAllele": "T",
          "start": 49656
        }
      ],
      "hgvs": [
        "NG_007558.3:g.49657T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "T",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Met751Lys",
        "hgvsWellDefined": "ENSP00000483331.2:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "T",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Met751Lys",
        "hgvsWellDefined": "ENSP00000205557.7:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.2252T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.2252T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Met751Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Met751Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2282,
          "referenceAllele": "T",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Met751Lys",
        "hgvsWellDefined": "ENSP00000205557.7:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2252,
          "referenceAllele": "T",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:p.Met751Lys",
        "hgvsWellDefined": "ENSP00000405002.2:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "T",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:p.Met751Lys",
        "hgvsWellDefined": "ENSP00000483331.1:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645442812",
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "T",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Met751Lys",
        "hgvsWellDefined": "NP_001162.4:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "referenceAllele": "T",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Met751Lys",
        "hgvsWellDefined": "XP_011520781.1:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.1910T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Met637Lys",
        "hgvsWellDefined": "XP_011520782.1:p.Met637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2422,
          "referenceAllele": "T",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.1910T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Met637Lys",
        "hgvsWellDefined": "XP_011520783.1:p.Met637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "referenceAllele": "T",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.1:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Met751Lys",
        "hgvsWellDefined": "XP_011520784.1:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2487,
          "referenceAllele": "T",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.2487T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
          "referenceAllele": "T",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.2488T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
          "referenceAllele": "T",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.2488T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627164",
      "coordinates": [
        {
          "allele": "A",
          "end": 2320,
          "referenceAllele": "T",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.1910T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Met637Lys",
        "hgvsWellDefined": "NP_001338729.1:p.Met637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "T",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.2289T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Met751Lys",
        "hgvsWellDefined": "XP_011520781.1:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2435,
          "referenceAllele": "T",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.1910T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Met637Lys",
        "hgvsWellDefined": "XP_011520783.1:p.Met637Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2431,
          "referenceAllele": "T",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.3:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Met751Lys",
        "hgvsWellDefined": "XP_011520784.1:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "endIntronDirection": "-",
          "endIntronOffset": 1334,
          "referenceAllele": "T",
          "start": 2428,
          "startIntronDirection": "-",
          "startIntronOffset": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.2248-1335T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:n.2248-1335T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "T",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Met751Lys",
        "hgvsWellDefined": "XP_016878703.1:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2471,
          "referenceAllele": "T",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.2288T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Met763Lys",
        "hgvsWellDefined": "XP_024306029.1:p.Met763Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.2433T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.2433T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.2433T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066606",
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "T",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.2252T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Met751Lys",
        "hgvsWellDefined": "NP_001162.5:p.Met751Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.2252T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.2252T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Met751Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Met751Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}