Canonical Allele Identifier: CA2611362081

Gene: UROS

Linked Data

• gnomAD v4: 10-125788824-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788824C>G , CM000672.2:g.125788824C>G	GRCh38
NC_000010.10:g.127477393C>G , CM000672.1:g.127477393C>G	GRCh37
NC_000010.9:g.127467383C>G	NCBI36
NG_011557.1:g.39445G>C
NG_011557.2:g.39445G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.*44G>C	ENSP00000518871.1:n.*44G>C
ENST00000368797.10:c.*44G>C MANE Select	ENSP00000357787.4:n.*44G>C
ENST00000465577.6:c.862G>C
ENST00000648427.1:c.*840G>C	ENSP00000497909.1:n.*840G>C
ENST00000649536.1:c.*44G>C	ENSP00000497817.1:n.*44G>C
ENST00000650472.1:n.3228G>C
ENST00000650524.1:c.755G>C	ENSP00000498108.1:n.755G>C
ENST00000650587.1:c.*44G>C	ENSP00000497366.1:n.*44G>C
ENST00000368786.5:c.*44G>C	ENSP00000357775.1:n.*44G>C
ENST00000368797.8:c.*44G>C	ENSP00000357787.4:n.*44G>C
ENST00000464267.1:n.939G>C
ENST00000465577.5:n.484G>C
ENST00000470483.1:n.530G>C
ENST00000484541.5:n.615G>C
ENST00000616800.4:c.161-3564G>C
ENST00000622016.4:c.241-2985G>C	ENSP00000483041.1:n.241-2985G>C
NM_000375.2:c.*44G>C	NP_000366.1:n.*44G>C
XM_005270137.2:c.*44G>C	XP_005270194.1:n.*44G>C
XM_005270138.2:c.*44G>C	XP_005270195.1:n.*44G>C
XM_005270139.2:c.661-2985G>C	XP_005270196.1:n.661-2985G>C
XM_006717960.2:c.*44G>C	XP_006718023.1:n.*44G>C
XM_011540127.1:c.661-3564G>C	XP_011538429.1:n.661-3564G>C
XR_246103.2:n.1022G>C
XR_945810.1:n.1252G>C
NM_000375.3:c.*44G>C MANE Select	NP_000366.1:n.*44G>C
NM_001324036.1:c.*44G>C	NP_001310965.1:n.*44G>C
NM_001324037.1:c.*44G>C	NP_001310966.1:n.*44G>C
NM_001324038.1:c.*44G>C	NP_001310967.1:n.*44G>C
NR_136675.1:n.927G>C
NR_136676.1:n.1354G>C
NR_136677.1:n.927-2985G>C
NR_136678.1:n.838G>C
XM_011540127.2:c.661-3564G>C	XP_011538429.1:n.661-3564G>C
XM_017016611.2:c.*44G>C	XP_016872100.2:n.*44G>C
XM_017016612.2:c.661-2985G>C	XP_016872101.1:n.661-2985G>C
XM_024448154.1:c.*44G>C	XP_024303922.1:n.*44G>C
XR_002957010.1:n.2181G>C
XR_246103.3:n.1037G>C
XR_945810.2:n.1267G>C
NM_001324036.2:c.*44G>C	NP_001310965.1:n.*44G>C
NM_001324037.2:c.*44G>C	NP_001310966.1:n.*44G>C
NM_001324038.2:c.*44G>C	NP_001310967.1:n.*44G>C
NR_136675.2:n.917G>C
NR_136676.2:n.1344G>C
NR_136678.2:n.828G>C
NR_136677.2:n.917-2985G>C