Canonical Allele Identifier: CA2611362065

Gene: UROS

Linked Data

• gnomAD v4: 10-125788803-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788803C>A , CM000672.2:g.125788803C>A	GRCh38
NC_000010.10:g.127477372C>A , CM000672.1:g.127477372C>A	GRCh37
NC_000010.9:g.127467362C>A	NCBI36
NG_011557.1:g.39466G>T
NG_011557.2:g.39466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*65G>T	ENSP00000518871.1:n.*65G>T
ENST00000368797.10:c.*65G>T MANE Select	ENSP00000357787.4:n.*65G>T
ENST00000465577.6:c.883G>T
ENST00000648427.1:c.*861G>T	ENSP00000497909.1:n.*861G>T
ENST00000649536.1:c.*65G>T	ENSP00000497817.1:n.*65G>T
ENST00000650472.1:n.3249G>T
ENST00000650524.1:c.776G>T	ENSP00000498108.1:n.776G>T
ENST00000650587.1:c.*65G>T	ENSP00000497366.1:n.*65G>T
ENST00000368786.5:c.*65G>T	ENSP00000357775.1:n.*65G>T
ENST00000368797.8:c.*65G>T	ENSP00000357787.4:n.*65G>T
ENST00000464267.1:n.960G>T
ENST00000465577.5:n.505G>T
ENST00000470483.1:n.551G>T
ENST00000484541.5:n.636G>T
ENST00000616800.4:c.161-3543G>T
ENST00000622016.4:c.241-2964G>T	ENSP00000483041.1:n.241-2964G>T
NM_000375.2:c.*65G>T	NP_000366.1:n.*65G>T
XM_005270137.2:c.*65G>T	XP_005270194.1:n.*65G>T
XM_005270138.2:c.*65G>T	XP_005270195.1:n.*65G>T
XM_005270139.2:c.661-2964G>T	XP_005270196.1:n.661-2964G>T
XM_006717960.2:c.*65G>T	XP_006718023.1:n.*65G>T
XM_011540127.1:c.661-3543G>T	XP_011538429.1:n.661-3543G>T
XR_246103.2:n.1043G>T
XR_945810.1:n.1273G>T
NM_000375.3:c.*65G>T MANE Select	NP_000366.1:n.*65G>T
NM_001324036.1:c.*65G>T	NP_001310965.1:n.*65G>T
NM_001324037.1:c.*65G>T	NP_001310966.1:n.*65G>T
NM_001324038.1:c.*65G>T	NP_001310967.1:n.*65G>T
NR_136675.1:n.948G>T
NR_136676.1:n.1375G>T
NR_136677.1:n.927-2964G>T
NR_136678.1:n.859G>T
XM_011540127.2:c.661-3543G>T	XP_011538429.1:n.661-3543G>T
XM_017016611.2:c.*65G>T	XP_016872100.2:n.*65G>T
XM_017016612.2:c.661-2964G>T	XP_016872101.1:n.661-2964G>T
XM_024448154.1:c.*65G>T	XP_024303922.1:n.*65G>T
XR_002957010.1:n.2202G>T
XR_246103.3:n.1058G>T
XR_945810.2:n.1288G>T
NM_001324036.2:c.*65G>T	NP_001310965.1:n.*65G>T
NM_001324037.2:c.*65G>T	NP_001310966.1:n.*65G>T
NM_001324038.2:c.*65G>T	NP_001310967.1:n.*65G>T
NR_136675.2:n.938G>T
NR_136676.2:n.1365G>T
NR_136678.2:n.849G>T
NR_136677.2:n.917-2964G>T