{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394984068", "communityStandardTitle": [ "NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976139[alleleid]", "alleleId": 976139, "preferredName": "NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988177", "RCV": [ "RCV001328181", "RCV002541644" ], "variationId": 988177 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.20359769G>T?assembly=hg19", "id": "chr16:g.20359769G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.20348447G>T?assembly=hg38", "id": "chr16:g.20348447G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766919534", "rs": 766919534 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-20348447-G-T?dataset=gnomad_r4", "id": "16-20348447-G-T", "variant": "16:20348447 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 20348447, "referenceAllele": "G", "start": 20348446 } ], "hgvs": [ "NC_000016.10:g.20348447G>T", "CM000678.2:g.20348447G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 20359769, "referenceAllele": "G", "start": 20359768 } ], "hgvs": [ "NC_000016.9:g.20359769G>T", "CM000678.1:g.20359769G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 20267270, "referenceAllele": "G", "start": 20267269 } ], "hgvs": [ "NC_000016.8:g.20267270G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 9269, "referenceAllele": "C", "start": 9268 } ], "hgvs": [ "NG_008151.1:g.9269C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000897" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396138.9:c.854C>A" ], "proteinEffect": { "hgvs": "ENSP00000379442.5:p.Ala285Glu", "hgvsWellDefined": "ENSP00000379442.5:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753491", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396138.9:c.854C>A" }, "RefSeq": { "hgvs": "NM_003361.4:c.854C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379442.5:p.Ala285Glu" }, "RefSeq": { "hgvs": "NP_003352.2:p.Ala285Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000302509.8:c.854C>A" ], "proteinEffect": { "hgvs": "ENSP00000306279.4:p.Ala285Glu", "hgvsWellDefined": "ENSP00000306279.4:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS255189" }, { "coordinates": [ { "allele": "A", "end": 1077, "referenceAllele": "C", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396134.6:c.953C>A" ], "proteinEffect": { "hgvs": "ENSP00000379438.2:p.Ala318Glu", "hgvsWellDefined": "ENSP00000379438.2:p.Ala318Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277113" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396138.8:c.1001C>A" ], "proteinEffect": { "hgvs": "ENSP00000379442.4:p.Ala334Glu", "hgvsWellDefined": "ENSP00000379442.4:p.Ala334Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277116" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000570689.5:c.854C>A" ], "proteinEffect": { "hgvs": "ENSP00000460548.1:p.Ala285Glu", "hgvsWellDefined": "ENSP00000460548.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS382193" }, { "@id": "http://reg.genome.network/allele/PA2825291461", "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001008389.2:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001008390.1:p.Ala285Glu", "hgvsWellDefined": "NP_001008390.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS007987" }, { "@id": "http://reg.genome.network/allele/PA2499244984", "coordinates": [ { "allele": "A", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001278614.1:c.953C>A" ], "proteinEffect": { "hgvs": "NP_001265543.1:p.Ala318Glu", "hgvsWellDefined": "NP_001265543.1:p.Ala318Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS021410" }, { "@id": "http://reg.genome.network/allele/PA2829447342", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_003361.3:c.854C>A" ], "proteinEffect": { "hgvs": "NP_003352.2:p.Ala285Glu", "hgvsWellDefined": "NP_003352.2:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS028607" }, { "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545934.1:c.938C>A" ], "proteinEffect": { "hgvs": "XP_011544236.1:p.Ala313Glu", "hgvsWellDefined": "XP_011544236.1:p.Ala313Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112816" }, { "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545935.1:c.854C>A" ], "proteinEffect": { "hgvs": "XP_011544237.1:p.Ala285Glu", "hgvsWellDefined": "XP_011544237.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112817" }, { "coordinates": [ { "allele": "A", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545936.1:c.854C>A" ], "proteinEffect": { "hgvs": "XP_011544238.1:p.Ala285Glu", "hgvsWellDefined": "XP_011544238.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112818" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545937.1:c.854C>A" ], "proteinEffect": { "hgvs": "XP_011544239.1:p.Ala285Glu", "hgvsWellDefined": "XP_011544239.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112819" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545938.1:c.854C>A" ], "proteinEffect": { "hgvs": "XP_011544240.1:p.Ala285Glu", "hgvsWellDefined": "XP_011544240.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112820" }, { "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545939.1:c.938C>A" ], "proteinEffect": { "hgvs": "XP_011544241.1:p.Ala313Glu", "hgvsWellDefined": "XP_011544241.1:p.Ala313Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112821" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545940.1:c.1001C>A" ], "proteinEffect": { "hgvs": "XP_011544242.1:p.Ala334Glu", "hgvsWellDefined": "XP_011544242.1:p.Ala334Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS112822" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545934.2:c.854C>A" ], "proteinEffect": { "hgvs": "XP_011544236.2:p.Ala285Glu", "hgvsWellDefined": "XP_011544236.2:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS556312" }, { "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545940.2:c.854C>A" ], "proteinEffect": { "hgvs": "XP_011544242.2:p.Ala285Glu", "hgvsWellDefined": "XP_011544242.2:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS556313" }, { "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_024450433.1:c.854C>A" ], "proteinEffect": { "hgvs": "XP_024306201.1:p.Ala285Glu", "hgvsWellDefined": "XP_024306201.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS583969" }, { "@id": "http://reg.genome.network/allele/PA2825291461", "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001008389.3:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001008390.1:p.Ala285Glu", "hgvsWellDefined": "NP_001008390.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675306" }, { "@id": "http://reg.genome.network/allele/PA2499244984", "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001278614.2:c.953C>A" ], "proteinEffect": { "hgvs": "NP_001265543.1:p.Ala318Glu", "hgvsWellDefined": "NP_001265543.1:p.Ala318Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS681526" }, { "@id": "http://reg.genome.network/allele/PA2828749326", "coordinates": [ { "allele": "A", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378232.1:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001365161.1:p.Ala285Glu", "hgvsWellDefined": "NP_001365161.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721584" }, { "@id": "http://reg.genome.network/allele/PA2828749647", "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378233.1:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001365162.1:p.Ala285Glu", "hgvsWellDefined": "NP_001365162.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721585" }, { "@id": "http://reg.genome.network/allele/PA2828749968", "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378234.1:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001365163.1:p.Ala285Glu", "hgvsWellDefined": "NP_001365163.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721586" }, { "@id": "http://reg.genome.network/allele/PA2828750289", "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378235.1:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001365164.1:p.Ala285Glu", "hgvsWellDefined": "NP_001365164.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721587" }, { "@id": "http://reg.genome.network/allele/PA2828750559", "coordinates": [ { "allele": "A", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378237.1:c.854C>A" ], "proteinEffect": { "hgvs": "NP_001365166.1:p.Ala285Glu", "hgvsWellDefined": "NP_001365166.1:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721588" }, { "@id": "http://reg.genome.network/allele/PA2829447342", "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_003361.4:c.854C>A" ], "proteinEffect": { "hgvs": "NP_003352.2:p.Ala285Glu", "hgvsWellDefined": "NP_003352.2:p.Ala285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS727377", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396138.9:c.854C>A" }, "RefSeq": { "hgvs": "NM_003361.4:c.854C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379442.5:p.Ala285Glu" }, "RefSeq": { "hgvs": "NP_003352.2:p.Ala285Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NR_165456.1:n.1079C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731721" } ], "type": "nucleotide" }