Canonical Allele Identifier: CA378685763
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788946G>T , CM000672.2:g.125788946G>T GRCh38
NC_000010.10:g.127477515G>T , CM000672.1:g.127477515G>T GRCh37
NC_000010.9:g.127467505G>T NCBI36
NG_011557.1:g.39323C>A
NG_011557.2:g.39323C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.720C>A ENSP00000518871.1:p.Ser240Arg
ENST00000368797.10:c.720C>A MANE Select ENSP00000357787.4:p.Ser240Arg
ENST00000465577.6:c.740C>A
ENST00000648427.1:c.*718C>A ENSP00000497909.1:n.*718C>A
ENST00000649536.1:c.720C>A ENSP00000497817.1:p.Ser240Arg
ENST00000650185.1:c.870C>A
ENST00000650472.1:n.3106C>A
ENST00000650524.1:c.633C>A ENSP00000498108.1:n.633C>A
ENST00000650587.1:c.801C>A ENSP00000497366.1:p.Ser267Arg
ENST00000368786.5:c.720C>A ENSP00000357775.1:p.Ser240Arg
ENST00000368797.8:c.720C>A ENSP00000357787.4:p.Ser240Arg
ENST00000464267.1:n.817C>A
ENST00000465577.5:n.362C>A
ENST00000470483.1:n.408C>A
ENST00000484541.5:n.493C>A
ENST00000616800.4:c.161-3686C>A
ENST00000622016.4:c.241-3107C>A ENSP00000483041.1:n.241-3107C>A
NM_000375.2:c.720C>A NP_000366.1:p.Ser240Arg
XM_005270137.2:c.801C>A XP_005270194.1:p.Ser267Arg
XM_005270138.2:c.720C>A XP_005270195.1:p.Ser240Arg
XM_005270139.2:c.661-3107C>A XP_005270196.1:n.661-3107C>A
XM_006717960.2:c.801C>A XP_006718023.1:p.Ser267Arg
XM_011540127.1:c.661-3686C>A XP_011538429.1:n.661-3686C>A
XR_246103.2:n.900C>A
XR_945810.1:n.1130C>A
NM_000375.3:c.720C>A MANE Select NP_000366.1:p.Ser240Arg
NM_001324036.1:c.801C>A NP_001310965.1:p.Ser267Arg
NM_001324037.1:c.720C>A NP_001310966.1:p.Ser240Arg
NM_001324038.1:c.639C>A NP_001310967.1:p.Ser213Arg
NR_136675.1:n.805C>A
NR_136676.1:n.1232C>A
NR_136677.1:n.927-3107C>A
NR_136678.1:n.716C>A
XM_011540127.2:c.661-3686C>A XP_011538429.1:n.661-3686C>A
XM_017016611.2:c.801C>A XP_016872100.2:p.Ser267Arg
XM_017016612.2:c.661-3107C>A XP_016872101.1:n.661-3107C>A
XM_024448154.1:c.720C>A XP_024303922.1:p.Ser240Arg
XR_002957010.1:n.2059C>A
XR_246103.3:n.915C>A
XR_945810.2:n.1145C>A
NM_001324036.2:c.801C>A NP_001310965.1:p.Ser267Arg
NM_001324037.2:c.720C>A NP_001310966.1:p.Ser240Arg
NM_001324038.2:c.639C>A NP_001310967.1:p.Ser213Arg
NR_136675.2:n.795C>A
NR_136676.2:n.1222C>A
NR_136678.2:n.706C>A
NR_136677.2:n.917-3107C>A