Canonical Allele Identifier: CA1943013967
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1854151738

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125823135G>A , CM000672.2:g.125823135G>A GRCh38
NC_000010.10:g.127511704G>A , CM000672.1:g.127511704G>A GRCh37
NC_000010.9:g.127501694G>A NCBI36
NG_011557.1:g.5134C>T
NG_029095.1:g.4601G>A
NG_011557.2:g.5134C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.-133C>T ENSP00000518871.1:n.-133C>T
ENST00000368797.10:c.-133C>T MANE Select ENSP00000357787.4:n.-133C>T
ENST00000648119.1:c.-133C>T ENSP00000497494.1:n.-133C>T
ENST00000648427.1:c.-133C>T ENSP00000497909.1:n.-133C>T
ENST00000649536.1:c.-133C>T ENSP00000497817.1:n.-133C>T
ENST00000368778.7:c.-133C>T ENSP00000357767.3:n.-133C>T
ENST00000368797.8:c.-133C>T ENSP00000357787.4:n.-133C>T
ENST00000420761.5:c.-133C>T ENSP00000414833.1:n.-133C>T
NM_000375.2:c.-133C>T NP_000366.1:n.-133C>T
XM_006717960.2:c.-27+72C>T XP_006718023.1:n.-27+72C>T
NM_000375.3:c.-133C>T MANE Select NP_000366.1:n.-133C>T
NM_001324036.1:c.-133C>T NP_001310965.1:n.-133C>T
NM_001324037.1:c.-133C>T NP_001310966.1:n.-133C>T
NM_001324038.1:c.-133C>T NP_001310967.1:n.-133C>T
NM_001324039.1:c.-133C>T NP_001310968.1:n.-133C>T
NR_136675.1:n.134C>T
NR_136676.1:n.134C>T
NR_136677.1:n.134C>T
NR_136678.1:n.134C>T
XM_017016611.2:c.-27+72C>T XP_016872100.2:n.-27+72C>T
XM_024448154.1:c.-27+72C>T XP_024303922.1:n.-27+72C>T
XM_024448155.1:c.-133C>T XP_024303923.1:n.-133C>T
XR_002957010.1:n.38+72C>T
NM_001324036.2:c.-133C>T NP_001310965.1:n.-133C>T
NM_001324037.2:c.-133C>T NP_001310966.1:n.-133C>T
NM_001324038.2:c.-133C>T NP_001310967.1:n.-133C>T
NR_136675.2:n.124C>T
NR_136676.2:n.124C>T
NR_136678.2:n.124C>T
NM_001324039.2:c.-133C>T NP_001310968.1:n.-133C>T
NR_136677.2:n.124C>T