Canonical Allele Identifier: CA378660491
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125812235C>A , CM000672.2:g.125812235C>A GRCh38
NC_000010.10:g.127500804C>A , CM000672.1:g.127500804C>A GRCh37
NC_000010.9:g.127490794C>A NCBI36
NG_011557.1:g.16034G>T
NG_011557.2:g.16034G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.298G>T ENSP00000518871.1:p.Gly100Ter
ENST00000368797.10:c.298G>T MANE Select ENSP00000357787.4:p.Gly100Ter
ENST00000648119.1:c.298G>T ENSP00000497494.1:p.Gly100Ter
ENST00000648427.1:c.298G>T ENSP00000497909.1:p.Gly100Ter
ENST00000649275.1:c.227G>T
ENST00000649450.1:n.335G>T
ENST00000649536.1:c.298G>T ENSP00000497817.1:p.Gly100Ter
ENST00000650185.1:c.81G>T
ENST00000650524.1:c.103G>T ENSP00000498108.1:p.Gly35Ter
ENST00000650587.1:c.298G>T ENSP00000497366.1:p.Gly100Ter
ENST00000368774.1:c.298G>T ENSP00000357763.1:p.Gly100Ter
ENST00000368778.7:c.298G>T ENSP00000357767.3:p.Gly100Ter
ENST00000368786.5:c.298G>T ENSP00000357775.1:p.Gly100Ter
ENST00000368797.8:c.298G>T ENSP00000357787.4:p.Gly100Ter
ENST00000420761.5:c.214G>T ENSP00000414833.1:p.Gly72Ter
NM_000375.2:c.298G>T NP_000366.1:p.Gly100Ter
XM_005270137.2:c.298G>T XP_005270194.1:p.Gly100Ter
XM_005270138.2:c.298G>T XP_005270195.1:p.Gly100Ter
XM_005270139.2:c.298G>T XP_005270196.1:p.Gly100Ter
XM_005270140.3:c.298G>T XP_005270197.1:p.Gly100Ter
XM_005270141.1:c.298G>T XP_005270198.1:p.Gly100Ter
XM_006717960.2:c.298G>T XP_006718023.1:p.Gly100Ter
XM_011540126.1:c.298G>T XP_011538428.1:p.Gly100Ter
XM_011540127.1:c.298G>T XP_011538429.1:p.Gly100Ter
XR_246103.2:n.406G>T
XR_945809.1:n.406G>T
XR_945810.1:n.406G>T
NM_000375.3:c.298G>T MANE Select NP_000366.1:p.Gly100Ter
NM_001324036.1:c.298G>T NP_001310965.1:p.Gly100Ter
NM_001324037.1:c.298G>T NP_001310966.1:p.Gly100Ter
NM_001324038.1:c.298G>T NP_001310967.1:p.Gly100Ter
NM_001324039.1:c.298G>T NP_001310968.1:p.Gly100Ter
NR_136675.1:n.383G>T
NR_136676.1:n.564G>T
NR_136677.1:n.564G>T
NR_136678.1:n.294G>T
XM_005270140.5:c.298G>T XP_005270197.1:p.Gly100Ter
XM_011540127.2:c.298G>T XP_011538429.1:p.Gly100Ter
XM_017016611.2:c.298G>T XP_016872100.2:p.Gly100Ter
XM_017016612.2:c.298G>T XP_016872101.1:p.Gly100Ter
XM_024448154.1:c.298G>T XP_024303922.1:p.Gly100Ter
XM_024448155.1:c.298G>T XP_024303923.1:p.Gly100Ter
XR_001747196.2:n.421G>T
XR_001747197.2:n.421G>T
XR_002957009.1:n.421G>T
XR_002957010.1:n.362G>T
XR_246103.3:n.421G>T
XR_945810.2:n.421G>T
NM_001324036.2:c.298G>T NP_001310965.1:p.Gly100Ter
NM_001324037.2:c.298G>T NP_001310966.1:p.Gly100Ter
NM_001324038.2:c.298G>T NP_001310967.1:p.Gly100Ter
NR_136675.2:n.373G>T
NR_136676.2:n.554G>T
NR_136678.2:n.284G>T
NM_001324039.2:c.298G>T NP_001310968.1:p.Gly100Ter
NR_136677.2:n.554G>T