Canonical Allele Identifier: CA471795397

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477566G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788997G>C , CM000672.2:g.125788997G>C	GRCh38
NC_000010.10:g.127477566G>C , CM000672.1:g.127477566G>C	GRCh37
NC_000010.9:g.127467556G>C	NCBI36
NG_011557.1:g.39272C>G
NG_011557.2:g.39272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.669C>G	ENSP00000518871.1:p.Ala223=
ENST00000368797.10:c.669C>G MANE Select	ENSP00000357787.4:p.Ala223=
ENST00000465577.6:c.689C>G
ENST00000648427.1:c.*667C>G	ENSP00000497909.1:n.*667C>G
ENST00000649536.1:c.669C>G	ENSP00000497817.1:p.Ala223=
ENST00000650185.1:c.819C>G
ENST00000650472.1:n.3055C>G
ENST00000650524.1:c.582C>G	ENSP00000498108.1:n.582C>G
ENST00000650587.1:c.750C>G	ENSP00000497366.1:p.Ala250=
ENST00000368786.5:c.669C>G	ENSP00000357775.1:p.Ala223=
ENST00000368797.8:c.669C>G	ENSP00000357787.4:p.Ala223=
ENST00000464267.1:n.766C>G
ENST00000465577.5:n.311C>G
ENST00000470483.1:n.357C>G
ENST00000484541.5:n.442C>G
ENST00000616800.4:c.161-3737C>G
ENST00000622016.4:c.241-3158C>G	ENSP00000483041.1:n.241-3158C>G
NM_000375.2:c.669C>G	NP_000366.1:p.Ala223=
XM_005270137.2:c.750C>G	XP_005270194.1:p.Ala250=
XM_005270138.2:c.669C>G	XP_005270195.1:p.Ala223=
XM_005270139.2:c.661-3158C>G	XP_005270196.1:n.661-3158C>G
XM_006717960.2:c.750C>G	XP_006718023.1:p.Ala250=
XM_011540127.1:c.661-3737C>G	XP_011538429.1:n.661-3737C>G
XR_246103.2:n.849C>G
XR_945810.1:n.1079C>G
NM_000375.3:c.669C>G MANE Select	NP_000366.1:p.Ala223=
NM_001324036.1:c.750C>G	NP_001310965.1:p.Ala250=
NM_001324037.1:c.669C>G	NP_001310966.1:p.Ala223=
NM_001324038.1:c.588C>G	NP_001310967.1:p.Ala196=
NR_136675.1:n.754C>G
NR_136676.1:n.1181C>G
NR_136677.1:n.927-3158C>G
NR_136678.1:n.665C>G
XM_011540127.2:c.661-3737C>G	XP_011538429.1:n.661-3737C>G
XM_017016611.2:c.750C>G	XP_016872100.2:p.Ala250=
XM_017016612.2:c.661-3158C>G	XP_016872101.1:n.661-3158C>G
XM_024448154.1:c.669C>G	XP_024303922.1:p.Ala223=
XR_002957010.1:n.2008C>G
XR_246103.3:n.864C>G
XR_945810.2:n.1094C>G
NM_001324036.2:c.750C>G	NP_001310965.1:p.Ala250=
NM_001324037.2:c.669C>G	NP_001310966.1:p.Ala223=
NM_001324038.2:c.588C>G	NP_001310967.1:p.Ala196=
NR_136675.2:n.744C>G
NR_136676.2:n.1171C>G
NR_136678.2:n.655C>G
NR_136677.2:n.917-3158C>G