Canonical Allele Identifier: CA1943001269

Gene: UROS

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125789001G= , CM000672.2:g.125789001G=	GRCh38
NC_000010.10:g.127477570G= , CM000672.1:g.127477570G=	GRCh37
NC_000010.9:g.127467560G=	NCBI36
NG_011557.1:g.39268C=
NG_011557.2:g.39268C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.665C=	ENSP00000518871.1:p.Ala222=
ENST00000368797.10:c.665C= MANE Select	ENSP00000357787.4:p.Ala222=
ENST00000465577.6:c.685C=
ENST00000648427.1:c.*663C=	ENSP00000497909.1:n.*663C=
ENST00000649536.1:c.665C=	ENSP00000497817.1:p.Ala222=
ENST00000650185.1:c.815C=
ENST00000650472.1:n.3051C=
ENST00000650524.1:c.578C=	ENSP00000498108.1:n.578C=
ENST00000650587.1:c.746C=	ENSP00000497366.1:p.Ala249=
ENST00000368786.5:c.665C=	ENSP00000357775.1:p.Ala222=
ENST00000368797.8:c.665C=	ENSP00000357787.4:p.Ala222=
ENST00000464267.1:n.762C=
ENST00000465577.5:n.307C=
ENST00000470483.1:n.353C=
ENST00000484541.5:n.438C=
ENST00000616800.4:c.161-3741C=
ENST00000622016.4:c.241-3162C=	ENSP00000483041.1:n.241-3162C=
NM_000375.2:c.665C=	NP_000366.1:p.Ala222=
XM_005270137.2:c.746C=	XP_005270194.1:p.Ala249=
XM_005270138.2:c.665C=	XP_005270195.1:p.Ala222=
XM_005270139.2:c.661-3162C=	XP_005270196.1:n.661-3162C=
XM_006717960.2:c.746C=	XP_006718023.1:p.Ala249=
XM_011540127.1:c.661-3741C=	XP_011538429.1:n.661-3741C=
XR_246103.2:n.845C=
XR_945810.1:n.1075C=
NM_000375.3:c.665C= MANE Select	NP_000366.1:p.Ala222=
NM_001324036.1:c.746C=	NP_001310965.1:p.Ala249=
NM_001324037.1:c.665C=	NP_001310966.1:p.Ala222=
NM_001324038.1:c.584C=	NP_001310967.1:p.Ala195=
NR_136675.1:n.750C=
NR_136676.1:n.1177C=
NR_136677.1:n.927-3162C=
NR_136678.1:n.661C=
XM_011540127.2:c.661-3741C=	XP_011538429.1:n.661-3741C=
XM_017016611.2:c.746C=	XP_016872100.2:p.Ala249=
XM_017016612.2:c.661-3162C=	XP_016872101.1:n.661-3162C=
XM_024448154.1:c.665C=	XP_024303922.1:p.Ala222=
XR_002957010.1:n.2004C=
XR_246103.3:n.860C=
XR_945810.2:n.1090C=
NM_001324036.2:c.746C=	NP_001310965.1:p.Ala249=
NM_001324037.2:c.665C=	NP_001310966.1:p.Ala222=
NM_001324038.2:c.584C=	NP_001310967.1:p.Ala195=
NR_136675.2:n.740C=
NR_136676.2:n.1167C=
NR_136678.2:n.651C=
NR_136677.2:n.917-3162C=