Canonical Allele Identifier: CA596582752

Gene: UROS

Linked Data

• dbSNP Id: rs1181768732
• gnomAD v2: 10-127477401-A-G
• gnomAD v4: 10-125788832-A-G
• MyVariant Identifiers: chr10:g.127477401A>G (hg19) ; chr10:g.125788832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788832A>G , CM000672.2:g.125788832A>G	GRCh38
NC_000010.10:g.127477401A>G , CM000672.1:g.127477401A>G	GRCh37
NC_000010.9:g.127467391A>G	NCBI36
NG_011557.1:g.39437T>C
NG_011557.2:g.39437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.*36T>C	ENSP00000518871.1:n.*36T>C
ENST00000368797.10:c.*36T>C MANE Select	ENSP00000357787.4:n.*36T>C
ENST00000465577.6:c.854T>C
ENST00000648427.1:c.*832T>C	ENSP00000497909.1:n.*832T>C
ENST00000649536.1:c.*36T>C	ENSP00000497817.1:n.*36T>C
ENST00000650472.1:n.3220T>C
ENST00000650524.1:c.747T>C	ENSP00000498108.1:n.747T>C
ENST00000650587.1:c.*36T>C	ENSP00000497366.1:n.*36T>C
ENST00000368786.5:c.*36T>C	ENSP00000357775.1:n.*36T>C
ENST00000368797.8:c.*36T>C	ENSP00000357787.4:n.*36T>C
ENST00000464267.1:n.931T>C
ENST00000465577.5:n.476T>C
ENST00000470483.1:n.522T>C
ENST00000484541.5:n.607T>C
ENST00000616800.4:c.161-3572T>C
ENST00000622016.4:c.241-2993T>C	ENSP00000483041.1:n.241-2993T>C
NM_000375.2:c.*36T>C	NP_000366.1:n.*36T>C
XM_005270137.2:c.*36T>C	XP_005270194.1:n.*36T>C
XM_005270138.2:c.*36T>C	XP_005270195.1:n.*36T>C
XM_005270139.2:c.661-2993T>C	XP_005270196.1:n.661-2993T>C
XM_006717960.2:c.*36T>C	XP_006718023.1:n.*36T>C
XM_011540127.1:c.661-3572T>C	XP_011538429.1:n.661-3572T>C
XR_246103.2:n.1014T>C
XR_945810.1:n.1244T>C
NM_000375.3:c.*36T>C MANE Select	NP_000366.1:n.*36T>C
NM_001324036.1:c.*36T>C	NP_001310965.1:n.*36T>C
NM_001324037.1:c.*36T>C	NP_001310966.1:n.*36T>C
NM_001324038.1:c.*36T>C	NP_001310967.1:n.*36T>C
NR_136675.1:n.919T>C
NR_136676.1:n.1346T>C
NR_136677.1:n.927-2993T>C
NR_136678.1:n.830T>C
XM_011540127.2:c.661-3572T>C	XP_011538429.1:n.661-3572T>C
XM_017016611.2:c.*36T>C	XP_016872100.2:n.*36T>C
XM_017016612.2:c.661-2993T>C	XP_016872101.1:n.661-2993T>C
XM_024448154.1:c.*36T>C	XP_024303922.1:n.*36T>C
XR_002957010.1:n.2173T>C
XR_246103.3:n.1029T>C
XR_945810.2:n.1259T>C
NM_001324036.2:c.*36T>C	NP_001310965.1:n.*36T>C
NM_001324037.2:c.*36T>C	NP_001310966.1:n.*36T>C
NM_001324038.2:c.*36T>C	NP_001310967.1:n.*36T>C
NR_136675.2:n.909T>C
NR_136676.2:n.1336T>C
NR_136678.2:n.820T>C
NR_136677.2:n.917-2993T>C