Canonical Allele Identifier: CA378685912

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477570G>T (hg19) ; chr10:g.125789001G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.665C>A	ENSP00000518871.1:p.Ala222Glu
ENST00000368797.10:c.665C>A MANE Select	ENSP00000357787.4:p.Ala222Glu
ENST00000465577.6:c.685C>A
ENST00000648427.1:c.*663C>A	ENSP00000497909.1:n.*663C>A
ENST00000649536.1:c.665C>A	ENSP00000497817.1:p.Ala222Glu
ENST00000650185.1:c.815C>A
ENST00000650472.1:n.3051C>A
ENST00000650524.1:c.578C>A	ENSP00000498108.1:n.578C>A
ENST00000650587.1:c.746C>A	ENSP00000497366.1:p.Ala249Glu
ENST00000368786.5:c.665C>A	ENSP00000357775.1:p.Ala222Glu
ENST00000368797.8:c.665C>A	ENSP00000357787.4:p.Ala222Glu
ENST00000464267.1:n.762C>A
ENST00000465577.5:n.307C>A
ENST00000470483.1:n.353C>A
ENST00000484541.5:n.438C>A
ENST00000616800.4:c.161-3741C>A
ENST00000622016.4:c.241-3162C>A	ENSP00000483041.1:n.241-3162C>A
NM_000375.2:c.665C>A	NP_000366.1:p.Ala222Glu
XM_005270137.2:c.746C>A	XP_005270194.1:p.Ala249Glu
XM_005270138.2:c.665C>A	XP_005270195.1:p.Ala222Glu
XM_005270139.2:c.661-3162C>A	XP_005270196.1:n.661-3162C>A
XM_006717960.2:c.746C>A	XP_006718023.1:p.Ala249Glu
XM_011540127.1:c.661-3741C>A	XP_011538429.1:n.661-3741C>A
XR_246103.2:n.845C>A
XR_945810.1:n.1075C>A
NM_000375.3:c.665C>A MANE Select	NP_000366.1:p.Ala222Glu
NM_001324036.1:c.746C>A	NP_001310965.1:p.Ala249Glu
NM_001324037.1:c.665C>A	NP_001310966.1:p.Ala222Glu
NM_001324038.1:c.584C>A	NP_001310967.1:p.Ala195Glu
NR_136675.1:n.750C>A
NR_136676.1:n.1177C>A
NR_136677.1:n.927-3162C>A
NR_136678.1:n.661C>A
XM_011540127.2:c.661-3741C>A	XP_011538429.1:n.661-3741C>A
XM_017016611.2:c.746C>A	XP_016872100.2:p.Ala249Glu
XM_017016612.2:c.661-3162C>A	XP_016872101.1:n.661-3162C>A
XM_024448154.1:c.665C>A	XP_024303922.1:p.Ala222Glu
XR_002957010.1:n.2004C>A
XR_246103.3:n.860C>A
XR_945810.2:n.1090C>A
NM_001324036.2:c.746C>A	NP_001310965.1:p.Ala249Glu
NM_001324037.2:c.665C>A	NP_001310966.1:p.Ala222Glu
NM_001324038.2:c.584C>A	NP_001310967.1:p.Ala195Glu
NR_136675.2:n.740C>A
NR_136676.2:n.1167C>A
NR_136678.2:n.651C>A
NR_136677.2:n.917-3162C>A