Canonical Allele Identifier: CA378685903

Gene: UROS

Linked Data

• gnomAD v4: 10-125788996-T-A
• MyVariant Identifiers: chr10:g.127477565T>A (hg19) ; chr10:g.125788996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788996T>A , CM000672.2:g.125788996T>A	GRCh38
NC_000010.10:g.127477565T>A , CM000672.1:g.127477565T>A	GRCh37
NC_000010.9:g.127467555T>A	NCBI36
NG_011557.1:g.39273A>T
NG_011557.2:g.39273A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.670A>T	ENSP00000518871.1:p.Ile224Phe
ENST00000368797.10:c.670A>T MANE Select	ENSP00000357787.4:p.Ile224Phe
ENST00000465577.6:c.690A>T
ENST00000648427.1:c.*668A>T	ENSP00000497909.1:n.*668A>T
ENST00000649536.1:c.670A>T	ENSP00000497817.1:p.Ile224Phe
ENST00000650185.1:c.820A>T
ENST00000650472.1:n.3056A>T
ENST00000650524.1:c.583A>T	ENSP00000498108.1:n.583A>T
ENST00000650587.1:c.751A>T	ENSP00000497366.1:p.Ile251Phe
ENST00000368786.5:c.670A>T	ENSP00000357775.1:p.Ile224Phe
ENST00000368797.8:c.670A>T	ENSP00000357787.4:p.Ile224Phe
ENST00000464267.1:n.767A>T
ENST00000465577.5:n.312A>T
ENST00000470483.1:n.358A>T
ENST00000484541.5:n.443A>T
ENST00000616800.4:c.161-3736A>T
ENST00000622016.4:c.241-3157A>T	ENSP00000483041.1:n.241-3157A>T
NM_000375.2:c.670A>T	NP_000366.1:p.Ile224Phe
XM_005270137.2:c.751A>T	XP_005270194.1:p.Ile251Phe
XM_005270138.2:c.670A>T	XP_005270195.1:p.Ile224Phe
XM_005270139.2:c.661-3157A>T	XP_005270196.1:n.661-3157A>T
XM_006717960.2:c.751A>T	XP_006718023.1:p.Ile251Phe
XM_011540127.1:c.661-3736A>T	XP_011538429.1:n.661-3736A>T
XR_246103.2:n.850A>T
XR_945810.1:n.1080A>T
NM_000375.3:c.670A>T MANE Select	NP_000366.1:p.Ile224Phe
NM_001324036.1:c.751A>T	NP_001310965.1:p.Ile251Phe
NM_001324037.1:c.670A>T	NP_001310966.1:p.Ile224Phe
NM_001324038.1:c.589A>T	NP_001310967.1:p.Ile197Phe
NR_136675.1:n.755A>T
NR_136676.1:n.1182A>T
NR_136677.1:n.927-3157A>T
NR_136678.1:n.666A>T
XM_011540127.2:c.661-3736A>T	XP_011538429.1:n.661-3736A>T
XM_017016611.2:c.751A>T	XP_016872100.2:p.Ile251Phe
XM_017016612.2:c.661-3157A>T	XP_016872101.1:n.661-3157A>T
XM_024448154.1:c.670A>T	XP_024303922.1:p.Ile224Phe
XR_002957010.1:n.2009A>T
XR_246103.3:n.865A>T
XR_945810.2:n.1095A>T
NM_001324036.2:c.751A>T	NP_001310965.1:p.Ile251Phe
NM_001324037.2:c.670A>T	NP_001310966.1:p.Ile224Phe
NM_001324038.2:c.589A>T	NP_001310967.1:p.Ile197Phe
NR_136675.2:n.745A>T
NR_136676.2:n.1172A>T
NR_136678.2:n.656A>T
NR_136677.2:n.917-3157A>T