{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413848960", "communityStandardTitle": [ "NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=798792[alleleid]", "alleleId": 798792, "preferredName": "NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/807578", "RCV": [ "RCV000995739" ], "variationId": 807578 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.107850041G>A?assembly=hg19", "id": "chrX:g.107850041G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.108606811G>A?assembly=hg38", "id": "chrX:g.108606811G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1603293570", "rs": 1603293570 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 108606811, "referenceAllele": "G", "start": 108606810 } ], "hgvs": [ "NC_000023.11:g.108606811G>A", "CM000685.2:g.108606811G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107850041, "referenceAllele": "G", "start": 107850040 } ], "hgvs": [ "NC_000023.10:g.107850041G>A", "CM000685.1:g.107850041G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107736697, "referenceAllele": "G", "start": 107736696 } ], "hgvs": [ "NC_000023.9:g.107736697G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 171888, "referenceAllele": "G", "start": 171887 } ], "hgvs": [ "NG_011977.1:g.171888G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002082" }, { "coordinates": [ { "allele": "A", "end": 171888, "referenceAllele": "G", "start": 171887 } ], "hgvs": [ "NG_011977.2:g.171888G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2602, "referenceAllele": "G", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.11:c.2314G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.7:p.Gly772Ser", "hgvsWellDefined": "ENSP00000331902.7:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS746901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2314G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2314G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly772Ser" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly772Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2516, "referenceAllele": "G", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.7:c.2314G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly772Ser", "hgvsWellDefined": "ENSP00000354505.2:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "A", "end": 2558, "referenceAllele": "G", "start": 2557 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.2314G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Gly772Ser", "hgvsWellDefined": "ENSP00000331902.6:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "A", "end": 2558, "referenceAllele": "G", "start": 2557 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.2314G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gly772Ser", "hgvsWellDefined": "ENSP00000354505.2:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "coordinates": [ { "allele": "A", "end": 1770, "referenceAllele": "G", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000483338.1:n.1770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322830" }, { "@id": "http://reg.genome.network/allele/PA2825198786", "coordinates": [ { "allele": "A", "end": 2596, "referenceAllele": "G", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.2314G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly772Ser", "hgvsWellDefined": "NP_000486.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA916077680", "coordinates": [ { "allele": "A", "end": 2596, "referenceAllele": "G", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.2314G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly772Ser", "hgvsWellDefined": "NP_203699.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "G", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.2314G>A" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gly772Ser", "hgvsWellDefined": "XP_005262127.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "G", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262072.3:c.2314G>A" ], "proteinEffect": { "hgvs": "XP_005262129.1:p.Gly772Ser", "hgvsWellDefined": "XP_005262129.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063312" }, { "coordinates": [ { "allele": "A", "end": 2494, "referenceAllele": "G", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.2314G>A" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gly772Ser", "hgvsWellDefined": "XP_006724679.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "A", "end": 2252, "referenceAllele": "G", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.1990G>A" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gly664Ser", "hgvsWellDefined": "XP_011529151.1:p.Gly664Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "G", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530850.1:c.2314G>A" ], "proteinEffect": { "hgvs": "XP_011529152.1:p.Gly772Ser", "hgvsWellDefined": "XP_011529152.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS097893" }, { "coordinates": [ { "allele": "A", "end": 80, "endIntronDirection": "+", "endIntronOffset": 3750, "referenceAllele": "G", "start": 80, "startIntronDirection": "+", "startIntronOffset": 3749 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.-33+3750G>A" ], "proteinEffect": { "hgvs": "XP_011529153.1:n.-33+3750G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.2329G>A" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gly777Ser", "hgvsWellDefined": "XP_011529151.2:p.Gly777Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.2329G>A" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gly777Ser", "hgvsWellDefined": "XP_016884748.1:p.Gly777Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.2329G>A" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gly777Ser", "hgvsWellDefined": "XP_016884749.1:p.Gly777Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029261.1:c.2329G>A" ], "proteinEffect": { "hgvs": "XP_016884750.1:p.Gly777Ser", "hgvsWellDefined": "XP_016884750.1:p.Gly777Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578837" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029262.2:c.2329G>A" ], "proteinEffect": { "hgvs": "XP_016884751.1:p.Gly777Ser", "hgvsWellDefined": "XP_016884751.1:p.Gly777Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.649G>A" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gly217Ser", "hgvsWellDefined": "XP_016884752.1:p.Gly217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825198786", "coordinates": [ { "allele": "A", "end": 2602, "referenceAllele": "G", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.2314G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly772Ser", "hgvsWellDefined": "NP_000486.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA916077680", "coordinates": [ { "allele": "A", "end": 2602, "referenceAllele": "G", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.2314G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly772Ser", "hgvsWellDefined": "NP_203699.1:p.Gly772Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.2314G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.2314G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly772Ser" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly772Ser" } } } } ], "type": "nucleotide" }