Canonical Allele Identifier: CA933571120

Gene: UROS

Linked Data

• dbSNP Id: rs1850710690
• gnomAD v3: 10-125788748-C-T
• gnomAD v4: 10-125788748-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788748C>T , CM000672.2:g.125788748C>T	GRCh38
NC_000010.10:g.127477317C>T , CM000672.1:g.127477317C>T	GRCh37
NC_000010.9:g.127467307C>T	NCBI36
NG_011557.1:g.39521G>A
NG_011557.2:g.39521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*120G>A	ENSP00000518871.1:n.*120G>A
ENST00000368797.10:c.*120G>A MANE Select	ENSP00000357787.4:n.*120G>A
ENST00000465577.6:c.938G>A
ENST00000648427.1:c.*916G>A	ENSP00000497909.1:n.*916G>A
ENST00000649536.1:c.*120G>A	ENSP00000497817.1:n.*120G>A
ENST00000650472.1:n.3304G>A
ENST00000650524.1:c.831G>A	ENSP00000498108.1:n.831G>A
ENST00000650587.1:c.*120G>A	ENSP00000497366.1:n.*120G>A
ENST00000368786.5:c.*120G>A	ENSP00000357775.1:n.*120G>A
ENST00000368797.8:c.*120G>A	ENSP00000357787.4:n.*120G>A
ENST00000464267.1:n.1015G>A
ENST00000465577.5:n.560G>A
ENST00000470483.1:n.606G>A
ENST00000484541.5:n.691G>A
ENST00000616800.4:c.161-3488G>A
ENST00000622016.4:c.241-2909G>A	ENSP00000483041.1:n.241-2909G>A
NM_000375.2:c.*120G>A	NP_000366.1:n.*120G>A
XM_005270137.2:c.*120G>A	XP_005270194.1:n.*120G>A
XM_005270138.2:c.*120G>A	XP_005270195.1:n.*120G>A
XM_005270139.2:c.661-2909G>A	XP_005270196.1:n.661-2909G>A
XM_006717960.2:c.*120G>A	XP_006718023.1:n.*120G>A
XM_011540127.1:c.661-3488G>A	XP_011538429.1:n.661-3488G>A
XR_246103.2:n.1098G>A
XR_945810.1:n.1328G>A
NM_000375.3:c.*120G>A MANE Select	NP_000366.1:n.*120G>A
NM_001324036.1:c.*120G>A	NP_001310965.1:n.*120G>A
NM_001324037.1:c.*120G>A	NP_001310966.1:n.*120G>A
NM_001324038.1:c.*120G>A	NP_001310967.1:n.*120G>A
NR_136675.1:n.1003G>A
NR_136676.1:n.1430G>A
NR_136677.1:n.927-2909G>A
NR_136678.1:n.914G>A
XM_011540127.2:c.661-3488G>A	XP_011538429.1:n.661-3488G>A
XM_017016611.2:c.*120G>A	XP_016872100.2:n.*120G>A
XM_017016612.2:c.661-2909G>A	XP_016872101.1:n.661-2909G>A
XM_024448154.1:c.*120G>A	XP_024303922.1:n.*120G>A
XR_002957010.1:n.2257G>A
XR_246103.3:n.1113G>A
XR_945810.2:n.1343G>A
NM_001324036.2:c.*120G>A	NP_001310965.1:n.*120G>A
NM_001324037.2:c.*120G>A	NP_001310966.1:n.*120G>A
NM_001324038.2:c.*120G>A	NP_001310967.1:n.*120G>A
NR_136675.2:n.993G>A
NR_136676.2:n.1420G>A
NR_136678.2:n.904G>A
NR_136677.2:n.917-2909G>A