Canonical Allele Identifier: CA378687876
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125798070T>G , CM000672.2:g.125798070T>G GRCh38
NC_000010.10:g.127486639T>G , CM000672.1:g.127486639T>G GRCh37
NC_000010.9:g.127476629T>G NCBI36
NG_011557.1:g.30199A>C
NG_011557.2:g.30199A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.470A>C ENSP00000518871.1:p.Asp157Ala
ENST00000368797.10:c.470A>C MANE Select ENSP00000357787.4:p.Asp157Ala
ENST00000465577.6:c.147A>C
ENST00000648119.1:c.470A>C ENSP00000497494.1:p.Asp157Ala
ENST00000648427.1:c.*125A>C ENSP00000497909.1:n.*125A>C
ENST00000649275.1:c.399A>C
ENST00000649450.1:n.507A>C
ENST00000649536.1:c.395-1882A>C ENSP00000497817.1:n.395-1882A>C
ENST00000650185.1:c.253A>C
ENST00000650472.1:n.2626A>C
ENST00000650524.1:c.311A>C ENSP00000498108.1:n.311A>C
ENST00000650587.1:c.470A>C ENSP00000497366.1:p.Asp157Ala
ENST00000368786.5:c.470A>C ENSP00000357775.1:p.Asp157Ala
ENST00000368797.8:c.470A>C ENSP00000357787.4:p.Asp157Ala
ENST00000420761.5:c.386A>C ENSP00000414833.1:p.Asp129Ala
ENST00000462490.5:c.129A>C
ENST00000464267.1:n.34A>C
ENST00000465577.5:n.31A>C
ENST00000622016.4:c.50A>C ENSP00000483041.1:p.Asp17Ala
NM_000375.2:c.470A>C NP_000366.1:p.Asp157Ala
XM_005270137.2:c.470A>C XP_005270194.1:p.Asp157Ala
XM_005270138.2:c.395-1882A>C XP_005270195.1:n.395-1882A>C
XM_005270139.2:c.470A>C XP_005270196.1:p.Asp157Ala
XM_005270140.3:c.470A>C XP_005270197.1:p.Asp157Ala
XM_006717960.2:c.470A>C XP_006718023.1:p.Asp157Ala
XM_011540126.1:c.470A>C XP_011538428.1:p.Asp157Ala
XM_011540127.1:c.470A>C XP_011538429.1:p.Asp157Ala
XR_246103.2:n.578A>C
XR_945809.1:n.578A>C
XR_945810.1:n.578A>C
NM_000375.3:c.470A>C MANE Select NP_000366.1:p.Asp157Ala
NM_001324036.1:c.470A>C NP_001310965.1:p.Asp157Ala
NM_001324037.1:c.395-1882A>C NP_001310966.1:n.395-1882A>C
NM_001324038.1:c.395-1882A>C NP_001310967.1:n.395-1882A>C
NR_136675.1:n.555A>C
NR_136676.1:n.736A>C
NR_136677.1:n.736A>C
NR_136678.1:n.466A>C
XM_005270140.5:c.470A>C XP_005270197.1:p.Asp157Ala
XM_011540127.2:c.470A>C XP_011538429.1:p.Asp157Ala
XM_017016611.2:c.470A>C XP_016872100.2:p.Asp157Ala
XM_017016612.2:c.470A>C XP_016872101.1:p.Asp157Ala
XM_024448154.1:c.470A>C XP_024303922.1:p.Asp157Ala
XM_024448155.1:c.395-1882A>C XP_024303923.1:n.395-1882A>C
XR_001747196.2:n.593A>C
XR_001747197.2:n.593A>C
XR_002957009.1:n.593A>C
XR_002957010.1:n.534A>C
XR_246103.3:n.593A>C
XR_945810.2:n.593A>C
NM_001324036.2:c.470A>C NP_001310965.1:p.Asp157Ala
NM_001324037.2:c.395-1882A>C NP_001310966.1:n.395-1882A>C
NM_001324038.2:c.395-1882A>C NP_001310967.1:n.395-1882A>C
NR_136675.2:n.545A>C
NR_136676.2:n.726A>C
NR_136678.2:n.456A>C
NR_136677.2:n.726A>C