Canonical Allele Identifier: CA2611362023

Gene: UROS

Linked Data

• gnomAD v4: 10-125788750-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788750C>T , CM000672.2:g.125788750C>T	GRCh38
NC_000010.10:g.127477319C>T , CM000672.1:g.127477319C>T	GRCh37
NC_000010.9:g.127467309C>T	NCBI36
NG_011557.1:g.39519G>A
NG_011557.2:g.39519G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.*118G>A	ENSP00000518871.1:n.*118G>A
ENST00000368797.10:c.*118G>A MANE Select	ENSP00000357787.4:n.*118G>A
ENST00000465577.6:c.936G>A
ENST00000648427.1:c.*914G>A	ENSP00000497909.1:n.*914G>A
ENST00000649536.1:c.*118G>A	ENSP00000497817.1:n.*118G>A
ENST00000650472.1:n.3302G>A
ENST00000650524.1:c.829G>A	ENSP00000498108.1:n.829G>A
ENST00000650587.1:c.*118G>A	ENSP00000497366.1:n.*118G>A
ENST00000368786.5:c.*118G>A	ENSP00000357775.1:n.*118G>A
ENST00000368797.8:c.*118G>A	ENSP00000357787.4:n.*118G>A
ENST00000464267.1:n.1013G>A
ENST00000465577.5:n.558G>A
ENST00000470483.1:n.604G>A
ENST00000484541.5:n.689G>A
ENST00000616800.4:c.161-3490G>A
ENST00000622016.4:c.241-2911G>A	ENSP00000483041.1:n.241-2911G>A
NM_000375.2:c.*118G>A	NP_000366.1:n.*118G>A
XM_005270137.2:c.*118G>A	XP_005270194.1:n.*118G>A
XM_005270138.2:c.*118G>A	XP_005270195.1:n.*118G>A
XM_005270139.2:c.661-2911G>A	XP_005270196.1:n.661-2911G>A
XM_006717960.2:c.*118G>A	XP_006718023.1:n.*118G>A
XM_011540127.1:c.661-3490G>A	XP_011538429.1:n.661-3490G>A
XR_246103.2:n.1096G>A
XR_945810.1:n.1326G>A
NM_000375.3:c.*118G>A MANE Select	NP_000366.1:n.*118G>A
NM_001324036.1:c.*118G>A	NP_001310965.1:n.*118G>A
NM_001324037.1:c.*118G>A	NP_001310966.1:n.*118G>A
NM_001324038.1:c.*118G>A	NP_001310967.1:n.*118G>A
NR_136675.1:n.1001G>A
NR_136676.1:n.1428G>A
NR_136677.1:n.927-2911G>A
NR_136678.1:n.912G>A
XM_011540127.2:c.661-3490G>A	XP_011538429.1:n.661-3490G>A
XM_017016611.2:c.*118G>A	XP_016872100.2:n.*118G>A
XM_017016612.2:c.661-2911G>A	XP_016872101.1:n.661-2911G>A
XM_024448154.1:c.*118G>A	XP_024303922.1:n.*118G>A
XR_002957010.1:n.2255G>A
XR_246103.3:n.1111G>A
XR_945810.2:n.1341G>A
NM_001324036.2:c.*118G>A	NP_001310965.1:n.*118G>A
NM_001324037.2:c.*118G>A	NP_001310966.1:n.*118G>A
NM_001324038.2:c.*118G>A	NP_001310967.1:n.*118G>A
NR_136675.2:n.991G>A
NR_136676.2:n.1418G>A
NR_136678.2:n.902G>A
NR_136677.2:n.917-2911G>A