Canonical Allele Identifier: CA358883
Community Standard Title: NM_000375.3(UROS):c.-203T>C
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125823205A>G , CM000672.2:g.125823205A>G GRCh38
NC_000010.10:g.127511774A>G , CM000672.1:g.127511774A>G GRCh37
NC_000010.9:g.127501764A>G NCBI36
NG_011557.1:g.5064T>C
NG_029095.1:g.4671A>G
NG_011557.2:g.5064T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000375.3:c.-203T>C MANE Select NP_000366.1:n.-203T>C
ENST00000368797.10:c.-203T>C MANE Select ENSP00000357787.4:n.-203T>C
NM_000375.2:c.-203T>C NP_000366.1:n.-203T>C
NM_001324036.1:c.-203T>C NP_001310965.1:n.-203T>C
NM_001324036.2:c.-203T>C NP_001310965.1:n.-203T>C
NM_001324037.1:c.-203T>C NP_001310966.1:n.-203T>C
NM_001324037.2:c.-203T>C NP_001310966.1:n.-203T>C
NM_001324038.1:c.-203T>C NP_001310967.1:n.-203T>C
NM_001324038.2:c.-203T>C NP_001310967.1:n.-203T>C
NM_001324039.1:c.-203T>C NP_001310968.1:n.-203T>C
NM_001324039.2:c.-203T>C NP_001310968.1:n.-203T>C
NR_136675.1:n.64T>C
NR_136675.2:n.54T>C
NR_136676.1:n.64T>C
NR_136676.2:n.54T>C
NR_136677.1:n.64T>C
NR_136677.2:n.54T>C
NR_136678.1:n.64T>C
NR_136678.2:n.54T>C
ENST00000368797.8:c.-203T>C ENSP00000357787.4:n.-203T>C
ENST00000420761.5:c.-203T>C ENSP00000414833.1:n.-203T>C
ENST00000648119.1:c.-203T>C ENSP00000497494.1:n.-203T>C
ENST00000713579.1:c.-203T>C ENSP00000518871.1:n.-203T>C
XM_006717960.2:c.-27+2T>C XP_006718023.1:n.-27+2T>C
XM_017016611.2:c.-27+2T>C XP_016872100.2:n.-27+2T>C
XM_024448154.1:c.-27+2T>C XP_024303922.1:n.-27+2T>C
XM_024448155.1:c.-203T>C XP_024303923.1:n.-203T>C
XR_002957010.1:n.38+2T>C