Canonical Allele Identifier: CA1943001114
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1850708963

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788729C>A , CM000672.2:g.125788729C>A GRCh38
NC_000010.10:g.127477298C>A , CM000672.1:g.127477298C>A GRCh37
NC_000010.9:g.127467288C>A NCBI36
NG_011557.1:g.39540G>T
NG_011557.2:g.39540G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.*139G>T ENSP00000518871.1:n.*139G>T
ENST00000368797.10:c.*139G>T MANE Select ENSP00000357787.4:n.*139G>T
ENST00000465577.6:c.957G>T
ENST00000648427.1:c.*935G>T ENSP00000497909.1:n.*935G>T
ENST00000649536.1:c.*139G>T ENSP00000497817.1:n.*139G>T
ENST00000650472.1:n.3323G>T
ENST00000650524.1:c.850G>T ENSP00000498108.1:n.850G>T
ENST00000650587.1:c.*139G>T ENSP00000497366.1:n.*139G>T
ENST00000368786.5:c.*139G>T ENSP00000357775.1:n.*139G>T
ENST00000368797.8:c.*139G>T ENSP00000357787.4:n.*139G>T
ENST00000464267.1:n.1034G>T
ENST00000465577.5:n.579G>T
ENST00000470483.1:n.625G>T
ENST00000484541.5:n.710G>T
ENST00000616800.4:c.161-3469G>T
ENST00000622016.4:c.241-2890G>T ENSP00000483041.1:n.241-2890G>T
NM_000375.2:c.*139G>T NP_000366.1:n.*139G>T
XM_005270137.2:c.*139G>T XP_005270194.1:n.*139G>T
XM_005270138.2:c.*139G>T XP_005270195.1:n.*139G>T
XM_005270139.2:c.661-2890G>T XP_005270196.1:n.661-2890G>T
XM_006717960.2:c.*139G>T XP_006718023.1:n.*139G>T
XM_011540127.1:c.661-3469G>T XP_011538429.1:n.661-3469G>T
XR_246103.2:n.1117G>T
XR_945810.1:n.1347G>T
NM_000375.3:c.*139G>T MANE Select NP_000366.1:n.*139G>T
NM_001324036.1:c.*139G>T NP_001310965.1:n.*139G>T
NM_001324037.1:c.*139G>T NP_001310966.1:n.*139G>T
NM_001324038.1:c.*139G>T NP_001310967.1:n.*139G>T
NR_136675.1:n.1022G>T
NR_136676.1:n.1449G>T
NR_136677.1:n.927-2890G>T
NR_136678.1:n.933G>T
XM_011540127.2:c.661-3469G>T XP_011538429.1:n.661-3469G>T
XM_017016611.2:c.*139G>T XP_016872100.2:n.*139G>T
XM_017016612.2:c.661-2890G>T XP_016872101.1:n.661-2890G>T
XM_024448154.1:c.*139G>T XP_024303922.1:n.*139G>T
XR_002957010.1:n.2276G>T
XR_246103.3:n.1132G>T
XR_945810.2:n.1362G>T
NM_001324036.2:c.*139G>T NP_001310965.1:n.*139G>T
NM_001324037.2:c.*139G>T NP_001310966.1:n.*139G>T
NM_001324038.2:c.*139G>T NP_001310967.1:n.*139G>T
NR_136675.2:n.1012G>T
NR_136676.2:n.1439G>T
NR_136678.2:n.923G>T
NR_136677.2:n.917-2890G>T