Canonical Allele Identifier: CA5738443

Gene: UROS

Linked Data

• dbSNP Id: rs768578292
• ExAC: 10:127486623 A / C
• gnomAD v2: 10-127486623-A-C
• gnomAD v3: 10-125798054-A-C
• gnomAD v4: 10-125798054-A-C
• MyVariant Identifiers: chr10:g.127486623A>C (hg19) ; chr10:g.125798054A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125798054A>C , CM000672.2:g.125798054A>C	GRCh38
NC_000010.10:g.127486623A>C , CM000672.1:g.127486623A>C	GRCh37
NC_000010.9:g.127476613A>C	NCBI36
NG_011557.1:g.30215T>G
NG_011557.2:g.30215T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.475+11T>G	ENSP00000518871.1:n.475+11T>G
ENST00000368797.10:c.475+11T>G MANE Select	ENSP00000357787.4:n.475+11T>G
ENST00000465577.6:c.152+11T>G
ENST00000648119.1:c.475+11T>G	ENSP00000497494.1:n.475+11T>G
ENST00000648427.1:c.*130+11T>G	ENSP00000497909.1:n.*130+11T>G
ENST00000649275.1:c.404+11T>G
ENST00000649450.1:n.512+11T>G
ENST00000649536.1:c.395-1866T>G	ENSP00000497817.1:n.395-1866T>G
ENST00000650185.1:c.258+11T>G
ENST00000650472.1:n.2631+11T>G
ENST00000650524.1:c.316+11T>G	ENSP00000498108.1:n.316+11T>G
ENST00000650587.1:c.475+11T>G	ENSP00000497366.1:n.475+11T>G
ENST00000368786.5:c.475+11T>G	ENSP00000357775.1:n.475+11T>G
ENST00000368797.8:c.475+11T>G	ENSP00000357787.4:n.475+11T>G
ENST00000420761.5:c.391+11T>G	ENSP00000414833.1:n.391+11T>G
ENST00000462490.5:c.134+11T>G
ENST00000464267.1:n.39+11T>G
ENST00000465577.5:n.36+11T>G
ENST00000622016.4:c.55+11T>G	ENSP00000483041.1:n.55+11T>G
NM_000375.2:c.475+11T>G	NP_000366.1:n.475+11T>G
XM_005270137.2:c.475+11T>G	XP_005270194.1:n.475+11T>G
XM_005270138.2:c.395-1866T>G	XP_005270195.1:n.395-1866T>G
XM_005270139.2:c.475+11T>G	XP_005270196.1:n.475+11T>G
XM_005270140.3:c.475+11T>G	XP_005270197.1:n.475+11T>G
XM_006717960.2:c.475+11T>G	XP_006718023.1:n.475+11T>G
XM_011540126.1:c.475+11T>G	XP_011538428.1:n.475+11T>G
XM_011540127.1:c.475+11T>G	XP_011538429.1:n.475+11T>G
XR_246103.2:n.583+11T>G
XR_945809.1:n.583+11T>G
XR_945810.1:n.583+11T>G
NM_000375.3:c.475+11T>G MANE Select	NP_000366.1:n.475+11T>G
NM_001324036.1:c.475+11T>G	NP_001310965.1:n.475+11T>G
NM_001324037.1:c.395-1866T>G	NP_001310966.1:n.395-1866T>G
NM_001324038.1:c.395-1866T>G	NP_001310967.1:n.395-1866T>G
NR_136675.1:n.560+11T>G
NR_136676.1:n.741+11T>G
NR_136677.1:n.741+11T>G
NR_136678.1:n.471+11T>G
XM_005270140.5:c.475+11T>G	XP_005270197.1:n.475+11T>G
XM_011540127.2:c.475+11T>G	XP_011538429.1:n.475+11T>G
XM_017016611.2:c.475+11T>G	XP_016872100.2:n.475+11T>G
XM_017016612.2:c.475+11T>G	XP_016872101.1:n.475+11T>G
XM_024448154.1:c.475+11T>G	XP_024303922.1:n.475+11T>G
XM_024448155.1:c.395-1866T>G	XP_024303923.1:n.395-1866T>G
XR_001747196.2:n.598+11T>G
XR_001747197.2:n.598+11T>G
XR_002957009.1:n.598+11T>G
XR_002957010.1:n.550T>G
XR_246103.3:n.598+11T>G
XR_945810.2:n.598+11T>G
NM_001324036.2:c.475+11T>G	NP_001310965.1:n.475+11T>G
NM_001324037.2:c.395-1866T>G	NP_001310966.1:n.395-1866T>G
NM_001324038.2:c.395-1866T>G	NP_001310967.1:n.395-1866T>G
NR_136675.2:n.550+11T>G
NR_136676.2:n.731+11T>G
NR_136678.2:n.461+11T>G
NR_136677.2:n.731+11T>G