Canonical Allele Identifier: CA378685918

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477572A>T (hg19) ; chr10:g.125789003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125789003A>T , CM000672.2:g.125789003A>T	GRCh38
NC_000010.10:g.127477572A>T , CM000672.1:g.127477572A>T	GRCh37
NC_000010.9:g.127467562A>T	NCBI36
NG_011557.1:g.39266T>A
NG_011557.2:g.39266T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.663T>A	ENSP00000518871.1:p.Phe221Leu
ENST00000368797.10:c.663T>A MANE Select	ENSP00000357787.4:p.Phe221Leu
ENST00000465577.6:c.683T>A
ENST00000648427.1:c.*661T>A	ENSP00000497909.1:n.*661T>A
ENST00000649536.1:c.663T>A	ENSP00000497817.1:p.Phe221Leu
ENST00000650185.1:c.813T>A
ENST00000650472.1:n.3049T>A
ENST00000650524.1:c.576T>A	ENSP00000498108.1:n.576T>A
ENST00000650587.1:c.744T>A	ENSP00000497366.1:p.Phe248Leu
ENST00000368786.5:c.663T>A	ENSP00000357775.1:p.Phe221Leu
ENST00000368797.8:c.663T>A	ENSP00000357787.4:p.Phe221Leu
ENST00000464267.1:n.760T>A
ENST00000465577.5:n.305T>A
ENST00000470483.1:n.351T>A
ENST00000484541.5:n.436T>A
ENST00000616800.4:c.161-3743T>A
ENST00000622016.4:c.241-3164T>A	ENSP00000483041.1:n.241-3164T>A
NM_000375.2:c.663T>A	NP_000366.1:p.Phe221Leu
XM_005270137.2:c.744T>A	XP_005270194.1:p.Phe248Leu
XM_005270138.2:c.663T>A	XP_005270195.1:p.Phe221Leu
XM_005270139.2:c.661-3164T>A	XP_005270196.1:n.661-3164T>A
XM_006717960.2:c.744T>A	XP_006718023.1:p.Phe248Leu
XM_011540127.1:c.661-3743T>A	XP_011538429.1:n.661-3743T>A
XR_246103.2:n.843T>A
XR_945810.1:n.1073T>A
NM_000375.3:c.663T>A MANE Select	NP_000366.1:p.Phe221Leu
NM_001324036.1:c.744T>A	NP_001310965.1:p.Phe248Leu
NM_001324037.1:c.663T>A	NP_001310966.1:p.Phe221Leu
NM_001324038.1:c.582T>A	NP_001310967.1:p.Phe194Leu
NR_136675.1:n.748T>A
NR_136676.1:n.1175T>A
NR_136677.1:n.927-3164T>A
NR_136678.1:n.659T>A
XM_011540127.2:c.661-3743T>A	XP_011538429.1:n.661-3743T>A
XM_017016611.2:c.744T>A	XP_016872100.2:p.Phe248Leu
XM_017016612.2:c.661-3164T>A	XP_016872101.1:n.661-3164T>A
XM_024448154.1:c.663T>A	XP_024303922.1:p.Phe221Leu
XR_002957010.1:n.2002T>A
XR_246103.3:n.858T>A
XR_945810.2:n.1088T>A
NM_001324036.2:c.744T>A	NP_001310965.1:p.Phe248Leu
NM_001324037.2:c.663T>A	NP_001310966.1:p.Phe221Leu
NM_001324038.2:c.582T>A	NP_001310967.1:p.Phe194Leu
NR_136675.2:n.738T>A
NR_136676.2:n.1165T>A
NR_136678.2:n.649T>A
NR_136677.2:n.917-3164T>A