Canonical Allele Identifier: CA378687879

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127486640C>T (hg19) ; chr10:g.125798071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125798071C>T , CM000672.2:g.125798071C>T	GRCh38
NC_000010.10:g.127486640C>T , CM000672.1:g.127486640C>T	GRCh37
NC_000010.9:g.127476630C>T	NCBI36
NG_011557.1:g.30198G>A
NG_011557.2:g.30198G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.469G>A	ENSP00000518871.1:p.Asp157Asn
ENST00000368797.10:c.469G>A MANE Select	ENSP00000357787.4:p.Asp157Asn
ENST00000465577.6:c.146G>A
ENST00000648119.1:c.469G>A	ENSP00000497494.1:p.Asp157Asn
ENST00000648427.1:c.*124G>A	ENSP00000497909.1:n.*124G>A
ENST00000649275.1:c.398G>A
ENST00000649450.1:n.506G>A
ENST00000649536.1:c.395-1883G>A	ENSP00000497817.1:n.395-1883G>A
ENST00000650185.1:c.252G>A
ENST00000650472.1:n.2625G>A
ENST00000650524.1:c.310G>A	ENSP00000498108.1:n.310G>A
ENST00000650587.1:c.469G>A	ENSP00000497366.1:p.Asp157Asn
ENST00000368786.5:c.469G>A	ENSP00000357775.1:p.Asp157Asn
ENST00000368797.8:c.469G>A	ENSP00000357787.4:p.Asp157Asn
ENST00000420761.5:c.385G>A	ENSP00000414833.1:p.Asp129Asn
ENST00000462490.5:c.128G>A
ENST00000464267.1:n.33G>A
ENST00000465577.5:n.30G>A
ENST00000622016.4:c.49G>A	ENSP00000483041.1:p.Asp17Asn
NM_000375.2:c.469G>A	NP_000366.1:p.Asp157Asn
XM_005270137.2:c.469G>A	XP_005270194.1:p.Asp157Asn
XM_005270138.2:c.395-1883G>A	XP_005270195.1:n.395-1883G>A
XM_005270139.2:c.469G>A	XP_005270196.1:p.Asp157Asn
XM_005270140.3:c.469G>A	XP_005270197.1:p.Asp157Asn
XM_006717960.2:c.469G>A	XP_006718023.1:p.Asp157Asn
XM_011540126.1:c.469G>A	XP_011538428.1:p.Asp157Asn
XM_011540127.1:c.469G>A	XP_011538429.1:p.Asp157Asn
XR_246103.2:n.577G>A
XR_945809.1:n.577G>A
XR_945810.1:n.577G>A
NM_000375.3:c.469G>A MANE Select	NP_000366.1:p.Asp157Asn
NM_001324036.1:c.469G>A	NP_001310965.1:p.Asp157Asn
NM_001324037.1:c.395-1883G>A	NP_001310966.1:n.395-1883G>A
NM_001324038.1:c.395-1883G>A	NP_001310967.1:n.395-1883G>A
NR_136675.1:n.554G>A
NR_136676.1:n.735G>A
NR_136677.1:n.735G>A
NR_136678.1:n.465G>A
XM_005270140.5:c.469G>A	XP_005270197.1:p.Asp157Asn
XM_011540127.2:c.469G>A	XP_011538429.1:p.Asp157Asn
XM_017016611.2:c.469G>A	XP_016872100.2:p.Asp157Asn
XM_017016612.2:c.469G>A	XP_016872101.1:p.Asp157Asn
XM_024448154.1:c.469G>A	XP_024303922.1:p.Asp157Asn
XM_024448155.1:c.395-1883G>A	XP_024303923.1:n.395-1883G>A
XR_001747196.2:n.592G>A
XR_001747197.2:n.592G>A
XR_002957009.1:n.592G>A
XR_002957010.1:n.533G>A
XR_246103.3:n.592G>A
XR_945810.2:n.592G>A
NM_001324036.2:c.469G>A	NP_001310965.1:p.Asp157Asn
NM_001324037.2:c.395-1883G>A	NP_001310966.1:n.395-1883G>A
NM_001324038.2:c.395-1883G>A	NP_001310967.1:n.395-1883G>A
NR_136675.2:n.544G>A
NR_136676.2:n.725G>A
NR_136678.2:n.455G>A
NR_136677.2:n.725G>A