Canonical Allele Identifier: CA2611362064
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788802G>T , CM000672.2:g.125788802G>T GRCh38
NC_000010.10:g.127477371G>T , CM000672.1:g.127477371G>T GRCh37
NC_000010.9:g.127467361G>T NCBI36
NG_011557.1:g.39467C>A
NG_011557.2:g.39467C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.*66C>A ENSP00000518871.1:n.*66C>A
ENST00000368797.10:c.*66C>A MANE Select ENSP00000357787.4:n.*66C>A
ENST00000465577.6:c.884C>A
ENST00000648427.1:c.*862C>A ENSP00000497909.1:n.*862C>A
ENST00000649536.1:c.*66C>A ENSP00000497817.1:n.*66C>A
ENST00000650472.1:n.3250C>A
ENST00000650524.1:c.777C>A ENSP00000498108.1:n.777C>A
ENST00000650587.1:c.*66C>A ENSP00000497366.1:n.*66C>A
ENST00000368786.5:c.*66C>A ENSP00000357775.1:n.*66C>A
ENST00000368797.8:c.*66C>A ENSP00000357787.4:n.*66C>A
ENST00000464267.1:n.961C>A
ENST00000465577.5:n.506C>A
ENST00000470483.1:n.552C>A
ENST00000484541.5:n.637C>A
ENST00000616800.4:c.161-3542C>A
ENST00000622016.4:c.241-2963C>A ENSP00000483041.1:n.241-2963C>A
NM_000375.2:c.*66C>A NP_000366.1:n.*66C>A
XM_005270137.2:c.*66C>A XP_005270194.1:n.*66C>A
XM_005270138.2:c.*66C>A XP_005270195.1:n.*66C>A
XM_005270139.2:c.661-2963C>A XP_005270196.1:n.661-2963C>A
XM_006717960.2:c.*66C>A XP_006718023.1:n.*66C>A
XM_011540127.1:c.661-3542C>A XP_011538429.1:n.661-3542C>A
XR_246103.2:n.1044C>A
XR_945810.1:n.1274C>A
NM_000375.3:c.*66C>A MANE Select NP_000366.1:n.*66C>A
NM_001324036.1:c.*66C>A NP_001310965.1:n.*66C>A
NM_001324037.1:c.*66C>A NP_001310966.1:n.*66C>A
NM_001324038.1:c.*66C>A NP_001310967.1:n.*66C>A
NR_136675.1:n.949C>A
NR_136676.1:n.1376C>A
NR_136677.1:n.927-2963C>A
NR_136678.1:n.860C>A
XM_011540127.2:c.661-3542C>A XP_011538429.1:n.661-3542C>A
XM_017016611.2:c.*66C>A XP_016872100.2:n.*66C>A
XM_017016612.2:c.661-2963C>A XP_016872101.1:n.661-2963C>A
XM_024448154.1:c.*66C>A XP_024303922.1:n.*66C>A
XR_002957010.1:n.2203C>A
XR_246103.3:n.1059C>A
XR_945810.2:n.1289C>A
NM_001324036.2:c.*66C>A NP_001310965.1:n.*66C>A
NM_001324037.2:c.*66C>A NP_001310966.1:n.*66C>A
NM_001324038.2:c.*66C>A NP_001310967.1:n.*66C>A
NR_136675.2:n.939C>A
NR_136676.2:n.1366C>A
NR_136678.2:n.850C>A
NR_136677.2:n.917-2963C>A