Canonical Allele Identifier: CA2611361953

Gene: UROS

Linked Data

• gnomAD v4: 10-125788665-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788665C>A , CM000672.2:g.125788665C>A	GRCh38
NC_000010.10:g.127477234C>A , CM000672.1:g.127477234C>A	GRCh37
NC_000010.9:g.127467224C>A	NCBI36
NG_011557.1:g.39604G>T
NG_011557.2:g.39604G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*203G>T	ENSP00000518871.1:n.*203G>T
ENST00000368797.10:c.*203G>T MANE Select	ENSP00000357787.4:n.*203G>T
ENST00000465577.6:c.1021G>T
ENST00000648427.1:c.*999G>T	ENSP00000497909.1:n.*999G>T
ENST00000649536.1:c.*203G>T	ENSP00000497817.1:n.*203G>T
ENST00000650472.1:n.3387G>T
ENST00000650524.1:c.914G>T	ENSP00000498108.1:n.914G>T
ENST00000650587.1:c.*203G>T	ENSP00000497366.1:n.*203G>T
ENST00000368786.5:c.*203G>T	ENSP00000357775.1:n.*203G>T
ENST00000368797.8:c.*203G>T	ENSP00000357787.4:n.*203G>T
ENST00000465577.5:n.643G>T
ENST00000470483.1:n.689G>T
ENST00000484541.5:n.774G>T
ENST00000616800.4:c.161-3405G>T
ENST00000622016.4:c.241-2826G>T	ENSP00000483041.1:n.241-2826G>T
NM_000375.2:c.*203G>T	NP_000366.1:n.*203G>T
XM_005270137.2:c.*203G>T	XP_005270194.1:n.*203G>T
XM_005270138.2:c.*203G>T	XP_005270195.1:n.*203G>T
XM_005270139.2:c.661-2826G>T	XP_005270196.1:n.661-2826G>T
XM_006717960.2:c.*203G>T	XP_006718023.1:n.*203G>T
XM_011540127.1:c.661-3405G>T	XP_011538429.1:n.661-3405G>T
XR_246103.2:n.1181G>T
XR_945810.1:n.1411G>T
NM_000375.3:c.*203G>T MANE Select	NP_000366.1:n.*203G>T
NM_001324036.1:c.*203G>T	NP_001310965.1:n.*203G>T
NM_001324037.1:c.*203G>T	NP_001310966.1:n.*203G>T
NM_001324038.1:c.*203G>T	NP_001310967.1:n.*203G>T
NR_136675.1:n.1086G>T
NR_136676.1:n.1513G>T
NR_136677.1:n.927-2826G>T
NR_136678.1:n.997G>T
XM_011540127.2:c.661-3405G>T	XP_011538429.1:n.661-3405G>T
XM_017016611.2:c.*203G>T	XP_016872100.2:n.*203G>T
XM_017016612.2:c.661-2826G>T	XP_016872101.1:n.661-2826G>T
XM_024448154.1:c.*203G>T	XP_024303922.1:n.*203G>T
XR_002957010.1:n.2340G>T
XR_246103.3:n.1196G>T
XR_945810.2:n.1426G>T
NM_001324036.2:c.*203G>T	NP_001310965.1:n.*203G>T
NM_001324037.2:c.*203G>T	NP_001310966.1:n.*203G>T
NM_001324038.2:c.*203G>T	NP_001310967.1:n.*203G>T
NR_136675.2:n.1076G>T
NR_136676.2:n.1503G>T
NR_136678.2:n.987G>T
NR_136677.2:n.917-2826G>T