Canonical Allele Identifier: CA378686468

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127483547C>G (hg19) ; chr10:g.125794978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125794978C>G , CM000672.2:g.125794978C>G	GRCh38
NC_000010.10:g.127483547C>G , CM000672.1:g.127483547C>G	GRCh37
NC_000010.9:g.127473537C>G	NCBI36
NG_011557.1:g.33291G>C
NG_011557.2:g.33291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.562G>C	ENSP00000518871.1:p.Gly188Arg
ENST00000368797.10:c.562G>C MANE Select	ENSP00000357787.4:p.Gly188Arg
ENST00000465577.6:c.336G>C
ENST00000648119.1:c.*151G>C	ENSP00000497494.1:n.*151G>C
ENST00000648427.1:c.*314G>C	ENSP00000497909.1:n.*314G>C
ENST00000649275.1:c.577G>C
ENST00000649536.1:c.481G>C	ENSP00000497817.1:p.Gly161Arg
ENST00000650185.1:c.345G>C
ENST00000650472.1:n.2948G>C
ENST00000650524.1:c.475G>C	ENSP00000498108.1:n.475G>C
ENST00000650587.1:c.562G>C	ENSP00000497366.1:p.Gly188Arg
ENST00000368786.5:c.562G>C	ENSP00000357775.1:p.Gly188Arg
ENST00000368797.8:c.562G>C	ENSP00000357787.4:p.Gly188Arg
ENST00000420761.5:c.478G>C	ENSP00000414833.1:p.Gly160Arg
ENST00000462490.5:c.221G>C
ENST00000464267.1:n.126G>C
ENST00000465577.5:n.123G>C
ENST00000470483.1:n.250G>C
ENST00000484541.5:n.89G>C
ENST00000616800.4:c.62G>C
ENST00000622016.4:c.142G>C	ENSP00000483041.1:p.Gly48Arg
NM_000375.2:c.562G>C	NP_000366.1:p.Gly188Arg
XM_005270137.2:c.562G>C	XP_005270194.1:p.Gly188Arg
XM_005270138.2:c.481G>C	XP_005270195.1:p.Gly161Arg
XM_005270139.2:c.562G>C	XP_005270196.1:p.Gly188Arg
XM_005270140.3:c.562G>C	XP_005270197.1:p.Gly188Arg
XM_006717960.2:c.562G>C	XP_006718023.1:p.Gly188Arg
XM_011540126.1:c.562G>C	XP_011538428.1:p.Gly188Arg
XM_011540127.1:c.562G>C	XP_011538429.1:p.Gly188Arg
XR_246103.2:n.742G>C
XR_945809.1:n.670G>C
XR_945810.1:n.972G>C
NM_000375.3:c.562G>C MANE Select	NP_000366.1:p.Gly188Arg
NM_001324036.1:c.562G>C	NP_001310965.1:p.Gly188Arg
NM_001324037.1:c.481G>C	NP_001310966.1:p.Gly161Arg
NM_001324038.1:c.481G>C	NP_001310967.1:p.Gly161Arg
NR_136675.1:n.647G>C
NR_136676.1:n.828G>C
NR_136677.1:n.828G>C
NR_136678.1:n.558G>C
XM_005270140.5:c.562G>C	XP_005270197.1:p.Gly188Arg
XM_011540127.2:c.562G>C	XP_011538429.1:p.Gly188Arg
XM_017016611.2:c.562G>C	XP_016872100.2:p.Gly188Arg
XM_017016612.2:c.562G>C	XP_016872101.1:p.Gly188Arg
XM_024448154.1:c.562G>C	XP_024303922.1:p.Gly188Arg
XM_024448155.1:c.481G>C	XP_024303923.1:p.Gly161Arg
XR_001747196.2:n.685G>C
XR_001747197.2:n.757G>C
XR_002957009.1:n.685G>C
XR_002957010.1:n.1901G>C
XR_246103.3:n.757G>C
XR_945810.2:n.987G>C
NM_001324036.2:c.562G>C	NP_001310965.1:p.Gly188Arg
NM_001324037.2:c.481G>C	NP_001310966.1:p.Gly161Arg
NM_001324038.2:c.481G>C	NP_001310967.1:p.Gly161Arg
NR_136675.2:n.637G>C
NR_136676.2:n.818G>C
NR_136678.2:n.548G>C
NR_136677.2:n.818G>C