Canonical Allele Identifier: CA378685807

Gene: UROS

Linked Data

• gnomAD v4: 10-125788959-C-A
• MyVariant Identifiers: chr10:g.127477528C>A (hg19) ; chr10:g.125788959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788959C>A , CM000672.2:g.125788959C>A	GRCh38
NC_000010.10:g.127477528C>A , CM000672.1:g.127477528C>A	GRCh37
NC_000010.9:g.127467518C>A	NCBI36
NG_011557.1:g.39310G>T
NG_011557.2:g.39310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.707G>T	ENSP00000518871.1:p.Gly236Val
ENST00000368797.10:c.707G>T MANE Select	ENSP00000357787.4:p.Gly236Val
ENST00000465577.6:c.727G>T
ENST00000648427.1:c.*705G>T	ENSP00000497909.1:n.*705G>T
ENST00000649536.1:c.707G>T	ENSP00000497817.1:p.Gly236Val
ENST00000650185.1:c.857G>T
ENST00000650472.1:n.3093G>T
ENST00000650524.1:c.620G>T	ENSP00000498108.1:n.620G>T
ENST00000650587.1:c.788G>T	ENSP00000497366.1:p.Gly263Val
ENST00000368786.5:c.707G>T	ENSP00000357775.1:p.Gly236Val
ENST00000368797.8:c.707G>T	ENSP00000357787.4:p.Gly236Val
ENST00000464267.1:n.804G>T
ENST00000465577.5:n.349G>T
ENST00000470483.1:n.395G>T
ENST00000484541.5:n.480G>T
ENST00000616800.4:c.161-3699G>T
ENST00000622016.4:c.241-3120G>T	ENSP00000483041.1:n.241-3120G>T
NM_000375.2:c.707G>T	NP_000366.1:p.Gly236Val
XM_005270137.2:c.788G>T	XP_005270194.1:p.Gly263Val
XM_005270138.2:c.707G>T	XP_005270195.1:p.Gly236Val
XM_005270139.2:c.661-3120G>T	XP_005270196.1:n.661-3120G>T
XM_006717960.2:c.788G>T	XP_006718023.1:p.Gly263Val
XM_011540127.1:c.661-3699G>T	XP_011538429.1:n.661-3699G>T
XR_246103.2:n.887G>T
XR_945810.1:n.1117G>T
NM_000375.3:c.707G>T MANE Select	NP_000366.1:p.Gly236Val
NM_001324036.1:c.788G>T	NP_001310965.1:p.Gly263Val
NM_001324037.1:c.707G>T	NP_001310966.1:p.Gly236Val
NM_001324038.1:c.626G>T	NP_001310967.1:p.Gly209Val
NR_136675.1:n.792G>T
NR_136676.1:n.1219G>T
NR_136677.1:n.927-3120G>T
NR_136678.1:n.703G>T
XM_011540127.2:c.661-3699G>T	XP_011538429.1:n.661-3699G>T
XM_017016611.2:c.788G>T	XP_016872100.2:p.Gly263Val
XM_017016612.2:c.661-3120G>T	XP_016872101.1:n.661-3120G>T
XM_024448154.1:c.707G>T	XP_024303922.1:p.Gly236Val
XR_002957010.1:n.2046G>T
XR_246103.3:n.902G>T
XR_945810.2:n.1132G>T
NM_001324036.2:c.788G>T	NP_001310965.1:p.Gly263Val
NM_001324037.2:c.707G>T	NP_001310966.1:p.Gly236Val
NM_001324038.2:c.626G>T	NP_001310967.1:p.Gly209Val
NR_136675.2:n.782G>T
NR_136676.2:n.1209G>T
NR_136678.2:n.693G>T
NR_136677.2:n.917-3120G>T