{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413850061", "communityStandardTitle": [ "NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=963383[alleleid]", "alleleId": 963383, "preferredName": "NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/975055", "RCV": [ "RCV001251459", "RCV003660872" ], "variationId": 975055 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.107858218G>A?assembly=hg19", "id": "chrX:g.107858218G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.108614988G>A?assembly=hg38", "id": "chrX:g.108614988G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/281874692", "rs": 281874692 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 108614988, "referenceAllele": "G", "start": 108614987 } ], "hgvs": [ "NC_000023.11:g.108614988G>A", "CM000685.2:g.108614988G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107858218, "referenceAllele": "G", "start": 107858217 } ], "hgvs": [ "NC_000023.10:g.107858218G>A", "CM000685.1:g.107858218G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107744874, "referenceAllele": "G", "start": 107744873 } ], "hgvs": [ "NC_000023.9:g.107744874G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 180065, "referenceAllele": "G", "start": 180064 } ], "hgvs": [ "NG_011977.1:g.180065G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002082" }, { "coordinates": [ { "allele": "A", "end": 180065, "referenceAllele": "G", "start": 180064 } ], "hgvs": [ "NG_011977.2:g.180065G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.11:c.2473G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.7:p.Gly825Arg", "hgvsWellDefined": "ENSP00000331902.7:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS746901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2473G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2473G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly825Arg" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly825Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 2675, "referenceAllele": "G", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.7:c.2473G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly825Arg", "hgvsWellDefined": "ENSP00000354505.2:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "A", "end": 2717, "referenceAllele": "G", "start": 2716 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.2473G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Gly825Arg", "hgvsWellDefined": "ENSP00000331902.6:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "A", "end": 2717, "referenceAllele": "G", "start": 2716 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.2473G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly825Arg", "hgvsWellDefined": "ENSP00000354505.2:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "coordinates": [ { "allele": "A", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000483338.1:n.1929G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322830" }, { "@id": "http://reg.genome.network/allele/PA2825198960", "coordinates": [ { "allele": "A", "end": 2755, "referenceAllele": "G", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.2473G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly825Arg", "hgvsWellDefined": "NP_000486.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA1139746537", "coordinates": [ { "allele": "A", "end": 2755, "referenceAllele": "G", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.2473G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly825Arg", "hgvsWellDefined": "NP_203699.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "A", "end": 2790, "referenceAllele": "G", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2473G>A" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gly825Arg", "hgvsWellDefined": "XP_005262127.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "A", "end": 2790, "referenceAllele": "G", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2473G>A" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Gly825Arg", "hgvsWellDefined": "XP_005262129.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "A", "end": 2653, "referenceAllele": "G", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2473G>A" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gly825Arg", "hgvsWellDefined": "XP_006724679.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "A", "end": 2411, "referenceAllele": "G", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.2149G>A" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gly717Arg", "hgvsWellDefined": "XP_011529151.1:p.Gly717Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "A", "end": 2790, "referenceAllele": "G", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2473G>A" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gly825Arg", "hgvsWellDefined": "XP_011529152.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.46G>A" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gly16Arg", "hgvsWellDefined": "XP_011529153.1:p.Gly16Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2488G>A" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gly830Arg", "hgvsWellDefined": "XP_011529151.2:p.Gly830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2488G>A" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gly830Arg", "hgvsWellDefined": "XP_016884748.1:p.Gly830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2488G>A" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gly830Arg", "hgvsWellDefined": "XP_016884749.1:p.Gly830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2488G>A" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gly830Arg", "hgvsWellDefined": "XP_016884750.1:p.Gly830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2488G>A" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gly830Arg", "hgvsWellDefined": "XP_016884751.1:p.Gly830Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "A", "end": 1587, "referenceAllele": "G", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.808G>A" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gly270Arg", "hgvsWellDefined": "XP_016884752.1:p.Gly270Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825198960", "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2473G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly825Arg", "hgvsWellDefined": "NP_000486.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA1139746537", "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2473G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly825Arg", "hgvsWellDefined": "NP_203699.1:p.Gly825Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2473G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2473G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly825Arg" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly825Arg" } } } } ], "type": "nucleotide" }