Canonical Allele Identifier: CA2611365652

Gene: UROS

Linked Data

• gnomAD v4: 10-125798156-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125798156A>G , CM000672.2:g.125798156A>G	GRCh38
NC_000010.10:g.127486725A>G , CM000672.1:g.127486725A>G	GRCh37
NC_000010.9:g.127476715A>G	NCBI36
NG_011557.1:g.30113T>C
NG_011557.2:g.30113T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.395-11T>C	ENSP00000518871.1:n.395-11T>C
ENST00000368797.10:c.395-11T>C MANE Select	ENSP00000357787.4:n.395-11T>C
ENST00000465577.6:c.72-11T>C
ENST00000648119.1:c.395-11T>C	ENSP00000497494.1:n.395-11T>C
ENST00000648427.1:c.*50-11T>C	ENSP00000497909.1:n.*50-11T>C
ENST00000649275.1:c.324-11T>C
ENST00000649450.1:n.432-11T>C
ENST00000649536.1:c.395-1968T>C	ENSP00000497817.1:n.395-1968T>C
ENST00000650185.1:c.178-11T>C
ENST00000650472.1:n.2540T>C
ENST00000650524.1:c.236-11T>C	ENSP00000498108.1:n.236-11T>C
ENST00000650587.1:c.395-11T>C	ENSP00000497366.1:n.395-11T>C
ENST00000368786.5:c.395-11T>C	ENSP00000357775.1:n.395-11T>C
ENST00000368797.8:c.395-11T>C	ENSP00000357787.4:n.395-11T>C
ENST00000420761.5:c.311-11T>C	ENSP00000414833.1:n.311-11T>C
ENST00000462490.5:c.54-11T>C
NM_000375.2:c.395-11T>C	NP_000366.1:n.395-11T>C
XM_005270137.2:c.395-11T>C	XP_005270194.1:n.395-11T>C
XM_005270138.2:c.395-1968T>C	XP_005270195.1:n.395-1968T>C
XM_005270139.2:c.395-11T>C	XP_005270196.1:n.395-11T>C
XM_005270140.3:c.395-11T>C	XP_005270197.1:n.395-11T>C
XM_006717960.2:c.395-11T>C	XP_006718023.1:n.395-11T>C
XM_011540126.1:c.395-11T>C	XP_011538428.1:n.395-11T>C
XM_011540127.1:c.395-11T>C	XP_011538429.1:n.395-11T>C
XR_246103.2:n.503-11T>C
XR_945809.1:n.503-11T>C
XR_945810.1:n.503-11T>C
NM_000375.3:c.395-11T>C MANE Select	NP_000366.1:n.395-11T>C
NM_001324036.1:c.395-11T>C	NP_001310965.1:n.395-11T>C
NM_001324037.1:c.395-1968T>C	NP_001310966.1:n.395-1968T>C
NM_001324038.1:c.395-1968T>C	NP_001310967.1:n.395-1968T>C
NR_136675.1:n.480-11T>C
NR_136676.1:n.661-11T>C
NR_136677.1:n.661-11T>C
NR_136678.1:n.391-11T>C
XM_005270140.5:c.395-11T>C	XP_005270197.1:n.395-11T>C
XM_011540127.2:c.395-11T>C	XP_011538429.1:n.395-11T>C
XM_017016611.2:c.395-11T>C	XP_016872100.2:n.395-11T>C
XM_017016612.2:c.395-11T>C	XP_016872101.1:n.395-11T>C
XM_024448154.1:c.395-11T>C	XP_024303922.1:n.395-11T>C
XM_024448155.1:c.395-1968T>C	XP_024303923.1:n.395-1968T>C
XR_001747196.2:n.518-11T>C
XR_001747197.2:n.518-11T>C
XR_002957009.1:n.518-11T>C
XR_002957010.1:n.459-11T>C
XR_246103.3:n.518-11T>C
XR_945810.2:n.518-11T>C
NM_001324036.2:c.395-11T>C	NP_001310965.1:n.395-11T>C
NM_001324037.2:c.395-1968T>C	NP_001310966.1:n.395-1968T>C
NM_001324038.2:c.395-1968T>C	NP_001310967.1:n.395-1968T>C
NR_136675.2:n.470-11T>C
NR_136676.2:n.651-11T>C
NR_136678.2:n.381-11T>C
NR_136677.2:n.651-11T>C