Canonical Allele Identifier: CA1943001256
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788977C= , CM000672.2:g.125788977C= GRCh38
NC_000010.10:g.127477546C= , CM000672.1:g.127477546C= GRCh37
NC_000010.9:g.127467536C= NCBI36
NG_011557.1:g.39292G=
NG_011557.2:g.39292G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.689G= ENSP00000518871.1:p.Arg230=
ENST00000368797.10:c.689G= MANE Select ENSP00000357787.4:p.Arg230=
ENST00000465577.6:c.709G=
ENST00000648427.1:c.*687G= ENSP00000497909.1:n.*687G=
ENST00000649536.1:c.689G= ENSP00000497817.1:p.Arg230=
ENST00000650185.1:c.839G=
ENST00000650472.1:n.3075G=
ENST00000650524.1:c.602G= ENSP00000498108.1:n.602G=
ENST00000650587.1:c.770G= ENSP00000497366.1:p.Arg257=
ENST00000368786.5:c.689G= ENSP00000357775.1:p.Arg230=
ENST00000368797.8:c.689G= ENSP00000357787.4:p.Arg230=
ENST00000464267.1:n.786G=
ENST00000465577.5:n.331G=
ENST00000470483.1:n.377G=
ENST00000484541.5:n.462G=
ENST00000616800.4:c.161-3717G=
ENST00000622016.4:c.241-3138G= ENSP00000483041.1:n.241-3138G=
NM_000375.2:c.689G= NP_000366.1:p.Arg230=
XM_005270137.2:c.770G= XP_005270194.1:p.Arg257=
XM_005270138.2:c.689G= XP_005270195.1:p.Arg230=
XM_005270139.2:c.661-3138G= XP_005270196.1:n.661-3138G=
XM_006717960.2:c.770G= XP_006718023.1:p.Arg257=
XM_011540127.1:c.661-3717G= XP_011538429.1:n.661-3717G=
XR_246103.2:n.869G=
XR_945810.1:n.1099G=
NM_000375.3:c.689G= MANE Select NP_000366.1:p.Arg230=
NM_001324036.1:c.770G= NP_001310965.1:p.Arg257=
NM_001324037.1:c.689G= NP_001310966.1:p.Arg230=
NM_001324038.1:c.608G= NP_001310967.1:p.Arg203=
NR_136675.1:n.774G=
NR_136676.1:n.1201G=
NR_136677.1:n.927-3138G=
NR_136678.1:n.685G=
XM_011540127.2:c.661-3717G= XP_011538429.1:n.661-3717G=
XM_017016611.2:c.770G= XP_016872100.2:p.Arg257=
XM_017016612.2:c.661-3138G= XP_016872101.1:n.661-3138G=
XM_024448154.1:c.689G= XP_024303922.1:p.Arg230=
XR_002957010.1:n.2028G=
XR_246103.3:n.884G=
XR_945810.2:n.1114G=
NM_001324036.2:c.770G= NP_001310965.1:p.Arg257=
NM_001324037.2:c.689G= NP_001310966.1:p.Arg230=
NM_001324038.2:c.608G= NP_001310967.1:p.Arg203=
NR_136675.2:n.764G=
NR_136676.2:n.1191G=
NR_136678.2:n.675G=
NR_136677.2:n.917-3138G=