Canonical Allele Identifier: CA2611366915

Gene: UROS

Linked Data

• gnomAD v4: 10-125816099-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125816099A>C , CM000672.2:g.125816099A>C	GRCh38
NC_000010.10:g.127504668A>C , CM000672.1:g.127504668A>C	GRCh37
NC_000010.9:g.127494658A>C	NCBI36
NG_011557.1:g.12170T>G
NG_011557.2:g.12170T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.147+78T>G	ENSP00000518871.1:n.147+78T>G
ENST00000368797.10:c.147+78T>G MANE Select	ENSP00000357787.4:n.147+78T>G
ENST00000648119.1:c.147+78T>G	ENSP00000497494.1:n.147+78T>G
ENST00000648427.1:c.147+78T>G	ENSP00000497909.1:n.147+78T>G
ENST00000649275.1:c.76+78T>G
ENST00000649450.1:n.184+78T>G
ENST00000649536.1:c.147+78T>G	ENSP00000497817.1:n.147+78T>G
ENST00000650587.1:c.147+78T>G	ENSP00000497366.1:n.147+78T>G
ENST00000368774.1:c.147+78T>G	ENSP00000357763.1:n.147+78T>G
ENST00000368778.7:c.147+78T>G	ENSP00000357767.3:n.147+78T>G
ENST00000368786.5:c.147+78T>G	ENSP00000357775.1:n.147+78T>G
ENST00000368797.8:c.147+78T>G	ENSP00000357787.4:n.147+78T>G
ENST00000420761.5:c.63+338T>G	ENSP00000414833.1:n.63+338T>G
NM_000375.2:c.147+78T>G	NP_000366.1:n.147+78T>G
XM_005270137.2:c.147+78T>G	XP_005270194.1:n.147+78T>G
XM_005270138.2:c.147+78T>G	XP_005270195.1:n.147+78T>G
XM_005270139.2:c.147+78T>G	XP_005270196.1:n.147+78T>G
XM_005270140.3:c.147+78T>G	XP_005270197.1:n.147+78T>G
XM_005270141.1:c.147+78T>G	XP_005270198.1:n.147+78T>G
XM_006717960.2:c.147+78T>G	XP_006718023.1:n.147+78T>G
XM_011540126.1:c.147+78T>G	XP_011538428.1:n.147+78T>G
XM_011540127.1:c.147+78T>G	XP_011538429.1:n.147+78T>G
XR_246103.2:n.255+78T>G
XR_945809.1:n.255+78T>G
XR_945810.1:n.255+78T>G
NM_000375.3:c.147+78T>G MANE Select	NP_000366.1:n.147+78T>G
NM_001324036.1:c.147+78T>G	NP_001310965.1:n.147+78T>G
NM_001324037.1:c.147+78T>G	NP_001310966.1:n.147+78T>G
NM_001324038.1:c.147+78T>G	NP_001310967.1:n.147+78T>G
NM_001324039.1:c.147+78T>G	NP_001310968.1:n.147+78T>G
NR_136675.1:n.329+338T>G
NR_136676.1:n.413+78T>G
NR_136677.1:n.413+78T>G
NR_136678.1:n.241-3811T>G
XM_005270140.5:c.147+78T>G	XP_005270197.1:n.147+78T>G
XM_011540127.2:c.147+78T>G	XP_011538429.1:n.147+78T>G
XM_017016611.2:c.147+78T>G	XP_016872100.2:n.147+78T>G
XM_017016612.2:c.147+78T>G	XP_016872101.1:n.147+78T>G
XM_024448154.1:c.147+78T>G	XP_024303922.1:n.147+78T>G
XM_024448155.1:c.147+78T>G	XP_024303923.1:n.147+78T>G
XR_001747196.2:n.270+78T>G
XR_001747197.2:n.270+78T>G
XR_002957009.1:n.270+78T>G
XR_002957010.1:n.211+78T>G
XR_246103.3:n.270+78T>G
XR_945810.2:n.270+78T>G
NM_001324036.2:c.147+78T>G	NP_001310965.1:n.147+78T>G
NM_001324037.2:c.147+78T>G	NP_001310966.1:n.147+78T>G
NM_001324038.2:c.147+78T>G	NP_001310967.1:n.147+78T>G
NR_136675.2:n.319+338T>G
NR_136676.2:n.403+78T>G
NR_136678.2:n.231-3811T>G
NM_001324039.2:c.147+78T>G	NP_001310968.1:n.147+78T>G
NR_136677.2:n.403+78T>G