Canonical Allele Identifier: CA2611361966

Gene: UROS

Linked Data

• gnomAD v4: 10-125788680-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788680G>A , CM000672.2:g.125788680G>A	GRCh38
NC_000010.10:g.127477249G>A , CM000672.1:g.127477249G>A	GRCh37
NC_000010.9:g.127467239G>A	NCBI36
NG_011557.1:g.39589C>T
NG_011557.2:g.39589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*188C>T	ENSP00000518871.1:n.*188C>T
ENST00000368797.10:c.*188C>T MANE Select	ENSP00000357787.4:n.*188C>T
ENST00000465577.6:c.1006C>T
ENST00000648427.1:c.*984C>T	ENSP00000497909.1:n.*984C>T
ENST00000649536.1:c.*188C>T	ENSP00000497817.1:n.*188C>T
ENST00000650472.1:n.3372C>T
ENST00000650524.1:c.899C>T	ENSP00000498108.1:n.899C>T
ENST00000650587.1:c.*188C>T	ENSP00000497366.1:n.*188C>T
ENST00000368786.5:c.*188C>T	ENSP00000357775.1:n.*188C>T
ENST00000368797.8:c.*188C>T	ENSP00000357787.4:n.*188C>T
ENST00000465577.5:n.628C>T
ENST00000470483.1:n.674C>T
ENST00000484541.5:n.759C>T
ENST00000616800.4:c.161-3420C>T
ENST00000622016.4:c.241-2841C>T	ENSP00000483041.1:n.241-2841C>T
NM_000375.2:c.*188C>T	NP_000366.1:n.*188C>T
XM_005270137.2:c.*188C>T	XP_005270194.1:n.*188C>T
XM_005270138.2:c.*188C>T	XP_005270195.1:n.*188C>T
XM_005270139.2:c.661-2841C>T	XP_005270196.1:n.661-2841C>T
XM_006717960.2:c.*188C>T	XP_006718023.1:n.*188C>T
XM_011540127.1:c.661-3420C>T	XP_011538429.1:n.661-3420C>T
XR_246103.2:n.1166C>T
XR_945810.1:n.1396C>T
NM_000375.3:c.*188C>T MANE Select	NP_000366.1:n.*188C>T
NM_001324036.1:c.*188C>T	NP_001310965.1:n.*188C>T
NM_001324037.1:c.*188C>T	NP_001310966.1:n.*188C>T
NM_001324038.1:c.*188C>T	NP_001310967.1:n.*188C>T
NR_136675.1:n.1071C>T
NR_136676.1:n.1498C>T
NR_136677.1:n.927-2841C>T
NR_136678.1:n.982C>T
XM_011540127.2:c.661-3420C>T	XP_011538429.1:n.661-3420C>T
XM_017016611.2:c.*188C>T	XP_016872100.2:n.*188C>T
XM_017016612.2:c.661-2841C>T	XP_016872101.1:n.661-2841C>T
XM_024448154.1:c.*188C>T	XP_024303922.1:n.*188C>T
XR_002957010.1:n.2325C>T
XR_246103.3:n.1181C>T
XR_945810.2:n.1411C>T
NM_001324036.2:c.*188C>T	NP_001310965.1:n.*188C>T
NM_001324037.2:c.*188C>T	NP_001310966.1:n.*188C>T
NM_001324038.2:c.*188C>T	NP_001310967.1:n.*188C>T
NR_136675.2:n.1061C>T
NR_136676.2:n.1488C>T
NR_136678.2:n.972C>T
NR_136677.2:n.917-2841C>T