Canonical Allele Identifier: CA378687872

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127486637T>C (hg19) ; chr10:g.125798068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125798068T>C , CM000672.2:g.125798068T>C	GRCh38
NC_000010.10:g.127486637T>C , CM000672.1:g.127486637T>C	GRCh37
NC_000010.9:g.127476627T>C	NCBI36
NG_011557.1:g.30201A>G
NG_011557.2:g.30201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.472A>G	ENSP00000518871.1:p.Lys158Glu
ENST00000368797.10:c.472A>G MANE Select	ENSP00000357787.4:p.Lys158Glu
ENST00000465577.6:c.149A>G
ENST00000648119.1:c.472A>G	ENSP00000497494.1:p.Lys158Glu
ENST00000648427.1:c.*127A>G	ENSP00000497909.1:n.*127A>G
ENST00000649275.1:c.401A>G
ENST00000649450.1:n.509A>G
ENST00000649536.1:c.395-1880A>G	ENSP00000497817.1:n.395-1880A>G
ENST00000650185.1:c.255A>G
ENST00000650472.1:n.2628A>G
ENST00000650524.1:c.313A>G	ENSP00000498108.1:n.313A>G
ENST00000650587.1:c.472A>G	ENSP00000497366.1:p.Lys158Glu
ENST00000368786.5:c.472A>G	ENSP00000357775.1:p.Lys158Glu
ENST00000368797.8:c.472A>G	ENSP00000357787.4:p.Lys158Glu
ENST00000420761.5:c.388A>G	ENSP00000414833.1:p.Lys130Glu
ENST00000462490.5:c.131A>G
ENST00000464267.1:n.36A>G
ENST00000465577.5:n.33A>G
ENST00000622016.4:c.52A>G	ENSP00000483041.1:p.Lys18Glu
NM_000375.2:c.472A>G	NP_000366.1:p.Lys158Glu
XM_005270137.2:c.472A>G	XP_005270194.1:p.Lys158Glu
XM_005270138.2:c.395-1880A>G	XP_005270195.1:n.395-1880A>G
XM_005270139.2:c.472A>G	XP_005270196.1:p.Lys158Glu
XM_005270140.3:c.472A>G	XP_005270197.1:p.Lys158Glu
XM_006717960.2:c.472A>G	XP_006718023.1:p.Lys158Glu
XM_011540126.1:c.472A>G	XP_011538428.1:p.Lys158Glu
XM_011540127.1:c.472A>G	XP_011538429.1:p.Lys158Glu
XR_246103.2:n.580A>G
XR_945809.1:n.580A>G
XR_945810.1:n.580A>G
NM_000375.3:c.472A>G MANE Select	NP_000366.1:p.Lys158Glu
NM_001324036.1:c.472A>G	NP_001310965.1:p.Lys158Glu
NM_001324037.1:c.395-1880A>G	NP_001310966.1:n.395-1880A>G
NM_001324038.1:c.395-1880A>G	NP_001310967.1:n.395-1880A>G
NR_136675.1:n.557A>G
NR_136676.1:n.738A>G
NR_136677.1:n.738A>G
NR_136678.1:n.468A>G
XM_005270140.5:c.472A>G	XP_005270197.1:p.Lys158Glu
XM_011540127.2:c.472A>G	XP_011538429.1:p.Lys158Glu
XM_017016611.2:c.472A>G	XP_016872100.2:p.Lys158Glu
XM_017016612.2:c.472A>G	XP_016872101.1:p.Lys158Glu
XM_024448154.1:c.472A>G	XP_024303922.1:p.Lys158Glu
XM_024448155.1:c.395-1880A>G	XP_024303923.1:n.395-1880A>G
XR_001747196.2:n.595A>G
XR_001747197.2:n.595A>G
XR_002957009.1:n.595A>G
XR_002957010.1:n.536A>G
XR_246103.3:n.595A>G
XR_945810.2:n.595A>G
NM_001324036.2:c.472A>G	NP_001310965.1:p.Lys158Glu
NM_001324037.2:c.395-1880A>G	NP_001310966.1:n.395-1880A>G
NM_001324038.2:c.395-1880A>G	NP_001310967.1:n.395-1880A>G
NR_136675.2:n.547A>G
NR_136676.2:n.728A>G
NR_136678.2:n.458A>G
NR_136677.2:n.728A>G