Canonical Allele Identifier: CA2611362079
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788823G>T , CM000672.2:g.125788823G>T GRCh38
NC_000010.10:g.127477392G>T , CM000672.1:g.127477392G>T GRCh37
NC_000010.9:g.127467382G>T NCBI36
NG_011557.1:g.39446C>A
NG_011557.2:g.39446C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.*45C>A ENSP00000518871.1:n.*45C>A
ENST00000368797.10:c.*45C>A MANE Select ENSP00000357787.4:n.*45C>A
ENST00000465577.6:c.863C>A
ENST00000648427.1:c.*841C>A ENSP00000497909.1:n.*841C>A
ENST00000649536.1:c.*45C>A ENSP00000497817.1:n.*45C>A
ENST00000650472.1:n.3229C>A
ENST00000650524.1:c.756C>A ENSP00000498108.1:n.756C>A
ENST00000650587.1:c.*45C>A ENSP00000497366.1:n.*45C>A
ENST00000368786.5:c.*45C>A ENSP00000357775.1:n.*45C>A
ENST00000368797.8:c.*45C>A ENSP00000357787.4:n.*45C>A
ENST00000464267.1:n.940C>A
ENST00000465577.5:n.485C>A
ENST00000470483.1:n.531C>A
ENST00000484541.5:n.616C>A
ENST00000616800.4:c.161-3563C>A
ENST00000622016.4:c.241-2984C>A ENSP00000483041.1:n.241-2984C>A
NM_000375.2:c.*45C>A NP_000366.1:n.*45C>A
XM_005270137.2:c.*45C>A XP_005270194.1:n.*45C>A
XM_005270138.2:c.*45C>A XP_005270195.1:n.*45C>A
XM_005270139.2:c.661-2984C>A XP_005270196.1:n.661-2984C>A
XM_006717960.2:c.*45C>A XP_006718023.1:n.*45C>A
XM_011540127.1:c.661-3563C>A XP_011538429.1:n.661-3563C>A
XR_246103.2:n.1023C>A
XR_945810.1:n.1253C>A
NM_000375.3:c.*45C>A MANE Select NP_000366.1:n.*45C>A
NM_001324036.1:c.*45C>A NP_001310965.1:n.*45C>A
NM_001324037.1:c.*45C>A NP_001310966.1:n.*45C>A
NM_001324038.1:c.*45C>A NP_001310967.1:n.*45C>A
NR_136675.1:n.928C>A
NR_136676.1:n.1355C>A
NR_136677.1:n.927-2984C>A
NR_136678.1:n.839C>A
XM_011540127.2:c.661-3563C>A XP_011538429.1:n.661-3563C>A
XM_017016611.2:c.*45C>A XP_016872100.2:n.*45C>A
XM_017016612.2:c.661-2984C>A XP_016872101.1:n.661-2984C>A
XM_024448154.1:c.*45C>A XP_024303922.1:n.*45C>A
XR_002957010.1:n.2182C>A
XR_246103.3:n.1038C>A
XR_945810.2:n.1268C>A
NM_001324036.2:c.*45C>A NP_001310965.1:n.*45C>A
NM_001324037.2:c.*45C>A NP_001310966.1:n.*45C>A
NM_001324038.2:c.*45C>A NP_001310967.1:n.*45C>A
NR_136675.2:n.918C>A
NR_136676.2:n.1345C>A
NR_136678.2:n.829C>A
NR_136677.2:n.917-2984C>A