Canonical Allele Identifier: CA340122

Gene: UROS

Linked Data

• ClinVar Variation Id: 3763
• ClinVar RCV Id: RCV000003961 ; RCV001851633
• dbSNP Id: rs397515349
• gnomAD v4: 10-125816708-C-T
• MyVariant Identifiers: chr10:g.127505277C>T (hg19) ; chr10:g.125816708C>T (hg38)
• PubMed: PMID:11254675 ; PMID:12060112 ; PMID:24027798

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125816708C>T , CM000672.2:g.125816708C>T	GRCh38
NC_000010.10:g.127505277C>T , CM000672.1:g.127505277C>T	GRCh37
NC_000010.9:g.127495267C>T	NCBI36
NG_011557.1:g.11561G>A
NG_011557.2:g.11561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.-26-183G>A	ENSP00000518871.1:n.-26-183G>A
ENST00000368797.10:c.-26-183G>A MANE Select	ENSP00000357787.4:n.-26-183G>A
ENST00000648119.1:c.-26-183G>A	ENSP00000497494.1:n.-26-183G>A
ENST00000648427.1:c.-26-183G>A	ENSP00000497909.1:n.-26-183G>A
ENST00000649450.1:n.12-183G>A
ENST00000649536.1:c.-26-183G>A	ENSP00000497817.1:n.-26-183G>A
ENST00000368774.1:c.-26-183G>A	ENSP00000357763.1:n.-26-183G>A
ENST00000368778.7:c.-26-183G>A	ENSP00000357767.3:n.-26-183G>A
ENST00000368797.8:c.-26-183G>A	ENSP00000357787.4:n.-26-183G>A
ENST00000420761.5:c.-26-183G>A	ENSP00000414833.1:n.-26-183G>A
NM_000375.2:c.-26-183G>A	NP_000366.1:n.-26-183G>A
XM_005270137.2:c.-26-183G>A	XP_005270194.1:n.-26-183G>A
XM_005270139.2:c.-26-183G>A	XP_005270196.1:n.-26-183G>A
XM_005270140.3:c.-26-183G>A	XP_005270197.1:n.-26-183G>A
XM_006717960.2:c.-26-183G>A	XP_006718023.1:n.-26-183G>A
XM_011540126.1:c.-26-183G>A	XP_011538428.1:n.-26-183G>A
XM_011540127.1:c.-26-183G>A	XP_011538429.1:n.-26-183G>A
XR_246103.2:n.83-183G>A
XR_945809.1:n.83-183G>A
XR_945810.1:n.83-183G>A
NM_000375.3:c.-26-183G>A MANE Select	NP_000366.1:n.-26-183G>A
NM_001324036.1:c.-26-183G>A	NP_001310965.1:n.-26-183G>A
NM_001324037.1:c.-26-183G>A	NP_001310966.1:n.-26-183G>A
NM_001324038.1:c.-26-183G>A	NP_001310967.1:n.-26-183G>A
NM_001324039.1:c.-26-183G>A	NP_001310968.1:n.-26-183G>A
NR_136675.1:n.241-183G>A
NR_136676.1:n.241-183G>A
NR_136677.1:n.241-183G>A
NR_136678.1:n.241-4420G>A
XM_005270140.5:c.-26-183G>A	XP_005270197.1:n.-26-183G>A
XM_011540127.2:c.-26-183G>A	XP_011538429.1:n.-26-183G>A
XM_017016611.2:c.-26-183G>A	XP_016872100.2:n.-26-183G>A
XM_017016612.2:c.-26-183G>A	XP_016872101.1:n.-26-183G>A
XM_024448154.1:c.-26-183G>A	XP_024303922.1:n.-26-183G>A
XM_024448155.1:c.-26-183G>A	XP_024303923.1:n.-26-183G>A
XR_001747196.2:n.98-183G>A
XR_001747197.2:n.98-183G>A
XR_002957009.1:n.98-183G>A
XR_002957010.1:n.39-183G>A
XR_246103.3:n.98-183G>A
XR_945810.2:n.98-183G>A
NM_001324036.2:c.-26-183G>A	NP_001310965.1:n.-26-183G>A
NM_001324037.2:c.-26-183G>A	NP_001310966.1:n.-26-183G>A
NM_001324038.2:c.-26-183G>A	NP_001310967.1:n.-26-183G>A
NR_136675.2:n.231-183G>A
NR_136676.2:n.231-183G>A
NR_136678.2:n.231-4420G>A
NM_001324039.2:c.-26-183G>A	NP_001310968.1:n.-26-183G>A
NR_136677.2:n.231-183G>A