{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256254248",
  "communityStandardTitle": [
    "NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336815[alleleid]",
        "alleleId": 1336815,
        "preferredName": "NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344995",
        "RCV": [
          "RCV002034853",
          "RCV002503347"
        ],
        "variationId": 1344995
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110827602G>A?assembly=hg19",
        "id": "chr13:g.110827602G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110175255G>A?assembly=hg38",
        "id": "chr13:g.110175255G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758076661",
        "rs": 758076661
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110175255-G-A?dataset=gnomad_r3",
        "id": "13-110175255-G-A",
        "variant": "13:110175255 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110175255-G-A?dataset=gnomad_r4",
        "id": "13-110175255-G-A",
        "variant": "13:110175255 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 110175255,
          "referenceAllele": "G",
          "start": 110175254
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110175255G>A",
        "CM000675.2:g.110175255G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 110827602,
          "referenceAllele": "G",
          "start": 110827601
        }
      ],
      "hgvs": [
        "NC_000013.10:g.110827602G>A",
        "CM000675.1:g.110827602G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 109625603,
          "referenceAllele": "G",
          "start": 109625602
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109625603G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136895,
          "referenceAllele": "C",
          "start": 136894
        }
      ],
      "hgvs": [
        "NG_011544.2:g.136895C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3291,
          "referenceAllele": "C",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.10:c.3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Pro1054Leu",
        "hgvsWellDefined": "ENSP00000364979.4:p.Pro1054Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.3161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.3161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Pro1054Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Pro1054Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.8:c.3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Pro1054Leu",
        "hgvsWellDefined": "ENSP00000364979.4:p.Pro1054Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573219396",
      "coordinates": [
        {
          "allele": "T",
          "end": 3291,
          "referenceAllele": "C",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.5:c.3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Pro1054Leu",
        "hgvsWellDefined": "NP_001836.3:p.Pro1054Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11223,
          "referenceAllele": "C",
          "start": 11222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.1:c.2969C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Pro990Leu",
        "hgvsWellDefined": "XP_011519350.1:p.Pro990Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11223,
          "referenceAllele": "C",
          "start": 11222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.2:c.2969C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Pro990Leu",
        "hgvsWellDefined": "XP_011519350.1:p.Pro990Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573219396",
      "coordinates": [
        {
          "allele": "T",
          "end": 3291,
          "referenceAllele": "C",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.6:c.3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Pro1054Leu",
        "hgvsWellDefined": "NP_001836.3:p.Pro1054Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.3161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.3161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Pro1054Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Pro1054Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}