{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394987412", "communityStandardTitle": [ "NM_003361.4(UMOD):c.203A>T (p.Glu68Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065677[alleleid]", "alleleId": 1065677, "preferredName": "NM_003361.4(UMOD):c.203A>T (p.Glu68Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1077014", "RCV": [ "RCV002251410" ], "variationId": 1077014 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.20360420T>A?assembly=hg19", "id": "chr16:g.20360420T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.20349098T>A?assembly=hg38", "id": "chr16:g.20349098T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2141676976", "rs": 2141676976 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 20349098, "referenceAllele": "T", "start": 20349097 } ], "hgvs": [ "NC_000016.10:g.20349098T>A", "CM000678.2:g.20349098T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 20360420, "referenceAllele": "T", "start": 20360419 } ], "hgvs": [ "NC_000016.9:g.20360420T>A", "CM000678.1:g.20360420T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 20267921, "referenceAllele": "T", "start": 20267920 } ], "hgvs": [ "NC_000016.8:g.20267921T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 8618, "referenceAllele": "A", "start": 8617 } ], "hgvs": [ "NG_008151.1:g.8618A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000897" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "A", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396138.9:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000379442.5:p.Glu68Val", "hgvsWellDefined": "ENSP00000379442.5:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS753491", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396138.9:c.203A>T" }, "RefSeq": { "hgvs": "NM_003361.4:c.203A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379442.5:p.Glu68Val" }, "RefSeq": { "hgvs": "NP_003352.2:p.Glu68Val" } } } }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000577168.2:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000459738.2:p.Glu68Val", "hgvsWellDefined": "ENSP00000459738.2:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS760805" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "A", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000302509.8:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000306279.4:p.Glu68Val", "hgvsWellDefined": "ENSP00000306279.4:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS255189" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "A", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396134.6:c.302A>T" ], "proteinEffect": { "hgvs": "ENSP00000379438.2:p.Glu101Val", "hgvsWellDefined": "ENSP00000379438.2:p.Glu101Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277113" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "A", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396138.8:c.350A>T" ], "proteinEffect": { "hgvs": "ENSP00000379442.4:p.Glu117Val", "hgvsWellDefined": "ENSP00000379442.4:p.Glu117Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277116" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "A", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000570689.5:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000460548.1:p.Glu68Val", "hgvsWellDefined": "ENSP00000460548.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS382193" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000570757.5:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000459724.1:p.Glu68Val", "hgvsWellDefined": "ENSP00000459724.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS382218" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "A", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000571174.5:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000458939.1:p.Glu68Val", "hgvsWellDefined": "ENSP00000458939.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS382401" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "A", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000573567.5:c.272A>T" ], "proteinEffect": { "hgvs": "ENSP00000460374.1:p.Glu91Val", "hgvsWellDefined": "ENSP00000460374.1:p.Glu91Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS383341" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "A", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000574195.5:c.365A>T" ], "proteinEffect": { "hgvs": "ENSP00000460845.1:p.Glu122Val", "hgvsWellDefined": "ENSP00000460845.1:p.Glu122Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS383584" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "A", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000576546.1:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000461120.1:p.Glu68Val", "hgvsWellDefined": "ENSP00000461120.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS384521" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "A", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000576688.2:c.203A>T" ], "proteinEffect": { "hgvs": "ENSP00000461641.1:p.Glu68Val", "hgvsWellDefined": "ENSP00000461641.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS384569" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000577168.1:c.287A>T" ], "proteinEffect": { "hgvs": "ENSP00000459738.1:p.Glu96Val", "hgvsWellDefined": "ENSP00000459738.1:p.Glu96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS384741" }, { "@id": "http://reg.genome.network/allele/PA2825291336", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001008389.2:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001008390.1:p.Glu68Val", "hgvsWellDefined": "NP_001008390.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS007987" }, { "@id": "http://reg.genome.network/allele/PA2826608085", "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "A", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001278614.1:c.302A>T" ], "proteinEffect": { "hgvs": "NP_001265543.1:p.Glu101Val", "hgvsWellDefined": "NP_001265543.1:p.Glu101Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS021410" }, { "@id": "http://reg.genome.network/allele/PA2499263904", "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "A", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_003361.3:c.203A>T" ], "proteinEffect": { "hgvs": "NP_003352.2:p.Glu68Val", "hgvsWellDefined": "NP_003352.2:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS028607" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545934.1:c.287A>T" ], "proteinEffect": { "hgvs": "XP_011544236.1:p.Glu96Val", "hgvsWellDefined": "XP_011544236.1:p.Glu96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112816" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "A", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545935.1:c.203A>T" ], "proteinEffect": { "hgvs": "XP_011544237.1:p.Glu68Val", "hgvsWellDefined": "XP_011544237.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112817" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "A", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545936.1:c.203A>T" ], "proteinEffect": { "hgvs": "XP_011544238.1:p.Glu68Val", "hgvsWellDefined": "XP_011544238.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112818" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "A", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545937.1:c.203A>T" ], "proteinEffect": { "hgvs": "XP_011544239.1:p.Glu68Val", "hgvsWellDefined": "XP_011544239.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112819" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "A", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545938.1:c.203A>T" ], "proteinEffect": { "hgvs": "XP_011544240.1:p.Glu68Val", "hgvsWellDefined": "XP_011544240.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112820" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545939.1:c.287A>T" ], "proteinEffect": { "hgvs": "XP_011544241.1:p.Glu96Val", "hgvsWellDefined": "XP_011544241.1:p.Glu96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112821" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "A", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545940.1:c.350A>T" ], "proteinEffect": { "hgvs": "XP_011544242.1:p.Glu117Val", "hgvsWellDefined": "XP_011544242.1:p.Glu117Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112822" }, { "coordinates": [ { "allele": "T", "end": 269, "referenceAllele": "A", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545934.2:c.203A>T" ], "proteinEffect": { "hgvs": "XP_011544236.2:p.Glu68Val", "hgvsWellDefined": "XP_011544236.2:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS556312" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "A", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545940.2:c.203A>T" ], "proteinEffect": { "hgvs": "XP_011544242.2:p.Glu68Val", "hgvsWellDefined": "XP_011544242.2:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS556313" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_024450433.1:c.203A>T" ], "proteinEffect": { "hgvs": "XP_024306201.1:p.Glu68Val", "hgvsWellDefined": "XP_024306201.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS583969" }, { "@id": "http://reg.genome.network/allele/PA2825291336", "coordinates": [ { "allele": "T", "end": 269, "referenceAllele": "A", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001008389.3:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001008390.1:p.Glu68Val", "hgvsWellDefined": "NP_001008390.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS675306" }, { "@id": "http://reg.genome.network/allele/PA2826608085", "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001278614.2:c.302A>T" ], "proteinEffect": { "hgvs": "NP_001265543.1:p.Glu101Val", "hgvsWellDefined": "NP_001265543.1:p.Glu101Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS681526" }, { "@id": "http://reg.genome.network/allele/PA2828749184", "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "A", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378232.1:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001365161.1:p.Glu68Val", "hgvsWellDefined": "NP_001365161.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721584" }, { "@id": "http://reg.genome.network/allele/PA2828749505", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "A", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378233.1:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001365162.1:p.Glu68Val", "hgvsWellDefined": "NP_001365162.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721585" }, { "@id": "http://reg.genome.network/allele/PA2828749827", "coordinates": [ { "allele": "T", "end": 269, "referenceAllele": "A", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378234.1:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001365163.1:p.Glu68Val", "hgvsWellDefined": "NP_001365163.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721586" }, { "@id": "http://reg.genome.network/allele/PA2828750148", "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "A", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378235.1:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001365164.1:p.Glu68Val", "hgvsWellDefined": "NP_001365164.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721587" }, { "@id": "http://reg.genome.network/allele/PA2828750417", "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "A", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378237.1:c.203A>T" ], "proteinEffect": { "hgvs": "NP_001365166.1:p.Glu68Val", "hgvsWellDefined": "NP_001365166.1:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS721588" }, { "@id": "http://reg.genome.network/allele/PA2499263904", "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "A", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_003361.4:c.203A>T" ], "proteinEffect": { "hgvs": "NP_003352.2:p.Glu68Val", "hgvsWellDefined": "NP_003352.2:p.Glu68Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS727377", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396138.9:c.203A>T" }, "RefSeq": { "hgvs": "NM_003361.4:c.203A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379442.5:p.Glu68Val" }, "RefSeq": { "hgvs": "NP_003352.2:p.Glu68Val" } } } }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "A", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NR_165456.1:n.428A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731721" } ], "type": "nucleotide" }