Canonical Allele Identifier: CA378685711

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477503C>G (hg19) ; chr10:g.125788934C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788934C>G , CM000672.2:g.125788934C>G	GRCh38
NC_000010.10:g.127477503C>G , CM000672.1:g.127477503C>G	GRCh37
NC_000010.9:g.127467493C>G	NCBI36
NG_011557.1:g.39335G>C
NG_011557.2:g.39335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.732G>C	ENSP00000518871.1:p.Glu244Asp
ENST00000368797.10:c.732G>C MANE Select	ENSP00000357787.4:p.Glu244Asp
ENST00000465577.6:c.752G>C
ENST00000648427.1:c.*730G>C	ENSP00000497909.1:n.*730G>C
ENST00000649536.1:c.732G>C	ENSP00000497817.1:p.Glu244Asp
ENST00000650185.1:c.882G>C
ENST00000650472.1:n.3118G>C
ENST00000650524.1:c.645G>C	ENSP00000498108.1:n.645G>C
ENST00000650587.1:c.813G>C	ENSP00000497366.1:p.Glu271Asp
ENST00000368786.5:c.732G>C	ENSP00000357775.1:p.Glu244Asp
ENST00000368797.8:c.732G>C	ENSP00000357787.4:p.Glu244Asp
ENST00000464267.1:n.829G>C
ENST00000465577.5:n.374G>C
ENST00000470483.1:n.420G>C
ENST00000484541.5:n.505G>C
ENST00000616800.4:c.161-3674G>C
ENST00000622016.4:c.241-3095G>C	ENSP00000483041.1:n.241-3095G>C
NM_000375.2:c.732G>C	NP_000366.1:p.Glu244Asp
XM_005270137.2:c.813G>C	XP_005270194.1:p.Glu271Asp
XM_005270138.2:c.732G>C	XP_005270195.1:p.Glu244Asp
XM_005270139.2:c.661-3095G>C	XP_005270196.1:n.661-3095G>C
XM_006717960.2:c.813G>C	XP_006718023.1:p.Glu271Asp
XM_011540127.1:c.661-3674G>C	XP_011538429.1:n.661-3674G>C
XR_246103.2:n.912G>C
XR_945810.1:n.1142G>C
NM_000375.3:c.732G>C MANE Select	NP_000366.1:p.Glu244Asp
NM_001324036.1:c.813G>C	NP_001310965.1:p.Glu271Asp
NM_001324037.1:c.732G>C	NP_001310966.1:p.Glu244Asp
NM_001324038.1:c.651G>C	NP_001310967.1:p.Glu217Asp
NR_136675.1:n.817G>C
NR_136676.1:n.1244G>C
NR_136677.1:n.927-3095G>C
NR_136678.1:n.728G>C
XM_011540127.2:c.661-3674G>C	XP_011538429.1:n.661-3674G>C
XM_017016611.2:c.813G>C	XP_016872100.2:p.Glu271Asp
XM_017016612.2:c.661-3095G>C	XP_016872101.1:n.661-3095G>C
XM_024448154.1:c.732G>C	XP_024303922.1:p.Glu244Asp
XR_002957010.1:n.2071G>C
XR_246103.3:n.927G>C
XR_945810.2:n.1157G>C
NM_001324036.2:c.813G>C	NP_001310965.1:p.Glu271Asp
NM_001324037.2:c.732G>C	NP_001310966.1:p.Glu244Asp
NM_001324038.2:c.651G>C	NP_001310967.1:p.Glu217Asp
NR_136675.2:n.807G>C
NR_136676.2:n.1234G>C
NR_136678.2:n.718G>C
NR_136677.2:n.917-3095G>C