Canonical Allele Identifier: CA10576008
Gene: UROS HGNC NCBI

Linked Data

ClinVar Variation Id: 225268
ClinVar RCV Id: RCV000210862
dbSNP Id: rs4385801

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125823221G>T , CM000672.2:g.125823221G>T GRCh38
NC_000010.10:g.127511790G>T , CM000672.1:g.127511790G>T GRCh37
NC_000010.9:g.127501780G>T NCBI36
NG_011557.1:g.5048C>A
NG_029095.1:g.4687G>T
NG_011557.2:g.5048C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368797.10:c.-219C>A MANE Select ENSP00000357787.4:n.-219C>A
ENST00000368797.8:c.-219C>A ENSP00000357787.4:n.-219C>A
ENST00000420761.5:c.-219C>A ENSP00000414833.1:n.-219C>A
NM_000375.2:c.-219C>A NP_000366.1:n.-219C>A
XM_006717960.2:c.-41C>A XP_006718023.1:n.-41C>A
NM_000375.3:c.-219C>A MANE Select NP_000366.1:n.-219C>A
NM_001324036.1:c.-219C>A NP_001310965.1:n.-219C>A
NM_001324037.1:c.-219C>A NP_001310966.1:n.-219C>A
NM_001324038.1:c.-219C>A NP_001310967.1:n.-219C>A
NM_001324039.1:c.-219C>A NP_001310968.1:n.-219C>A
NR_136675.1:n.48C>A
NR_136676.1:n.48C>A
NR_136677.1:n.48C>A
NR_136678.1:n.48C>A
XM_017016611.2:c.-41C>A XP_016872100.2:n.-41C>A
XM_024448154.1:c.-41C>A XP_024303922.1:n.-41C>A
XM_024448155.1:c.-219C>A XP_024303923.1:n.-219C>A
XR_002957010.1:n.24C>A
NM_001324036.2:c.-219C>A NP_001310965.1:n.-219C>A
NM_001324037.2:c.-219C>A NP_001310966.1:n.-219C>A
NM_001324038.2:c.-219C>A NP_001310967.1:n.-219C>A
NR_136675.2:n.38C>A
NR_136676.2:n.38C>A
NR_136678.2:n.38C>A
NM_001324039.2:c.-219C>A NP_001310968.1:n.-219C>A
NR_136677.2:n.38C>A