Canonical Allele Identifier: CA5738325
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs201616690

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.689G>C ENSP00000518871.1:p.Arg230Pro
ENST00000368797.10:c.689G>C MANE Select ENSP00000357787.4:p.Arg230Pro
ENST00000465577.6:c.709G>C
ENST00000648427.1:c.*687G>C ENSP00000497909.1:n.*687G>C
ENST00000649536.1:c.689G>C ENSP00000497817.1:p.Arg230Pro
ENST00000650185.1:c.839G>C
ENST00000650472.1:n.3075G>C
ENST00000650524.1:c.602G>C ENSP00000498108.1:n.602G>C
ENST00000650587.1:c.770G>C ENSP00000497366.1:p.Arg257Pro
ENST00000368786.5:c.689G>C ENSP00000357775.1:p.Arg230Pro
ENST00000368797.8:c.689G>C ENSP00000357787.4:p.Arg230Pro
ENST00000464267.1:n.786G>C
ENST00000465577.5:n.331G>C
ENST00000470483.1:n.377G>C
ENST00000484541.5:n.462G>C
ENST00000616800.4:c.161-3717G>C
ENST00000622016.4:c.241-3138G>C ENSP00000483041.1:n.241-3138G>C
NM_000375.2:c.689G>C NP_000366.1:p.Arg230Pro
XM_005270137.2:c.770G>C XP_005270194.1:p.Arg257Pro
XM_005270138.2:c.689G>C XP_005270195.1:p.Arg230Pro
XM_005270139.2:c.661-3138G>C XP_005270196.1:n.661-3138G>C
XM_006717960.2:c.770G>C XP_006718023.1:p.Arg257Pro
XM_011540127.1:c.661-3717G>C XP_011538429.1:n.661-3717G>C
XR_246103.2:n.869G>C
XR_945810.1:n.1099G>C
NM_000375.3:c.689G>C MANE Select NP_000366.1:p.Arg230Pro
NM_001324036.1:c.770G>C NP_001310965.1:p.Arg257Pro
NM_001324037.1:c.689G>C NP_001310966.1:p.Arg230Pro
NM_001324038.1:c.608G>C NP_001310967.1:p.Arg203Pro
NR_136675.1:n.774G>C
NR_136676.1:n.1201G>C
NR_136677.1:n.927-3138G>C
NR_136678.1:n.685G>C
XM_011540127.2:c.661-3717G>C XP_011538429.1:n.661-3717G>C
XM_017016611.2:c.770G>C XP_016872100.2:p.Arg257Pro
XM_017016612.2:c.661-3138G>C XP_016872101.1:n.661-3138G>C
XM_024448154.1:c.689G>C XP_024303922.1:p.Arg230Pro
XR_002957010.1:n.2028G>C
XR_246103.3:n.884G>C
XR_945810.2:n.1114G>C
NM_001324036.2:c.770G>C NP_001310965.1:p.Arg257Pro
NM_001324037.2:c.689G>C NP_001310966.1:p.Arg230Pro
NM_001324038.2:c.608G>C NP_001310967.1:p.Arg203Pro
NR_136675.2:n.764G>C
NR_136676.2:n.1191G>C
NR_136678.2:n.675G>C
NR_136677.2:n.917-3138G>C