Canonical Allele Identifier: CA2611362100

Gene: UROS

Linked Data

• gnomAD v4: 10-125788845-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788845G>T , CM000672.2:g.125788845G>T	GRCh38
NC_000010.10:g.127477414G>T , CM000672.1:g.127477414G>T	GRCh37
NC_000010.9:g.127467404G>T	NCBI36
NG_011557.1:g.39424C>A
NG_011557.2:g.39424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*23C>A	ENSP00000518871.1:n.*23C>A
ENST00000368797.10:c.*23C>A MANE Select	ENSP00000357787.4:n.*23C>A
ENST00000465577.6:c.841C>A
ENST00000648427.1:c.*819C>A	ENSP00000497909.1:n.*819C>A
ENST00000649536.1:c.*23C>A	ENSP00000497817.1:n.*23C>A
ENST00000650472.1:n.3207C>A
ENST00000650524.1:c.734C>A	ENSP00000498108.1:n.734C>A
ENST00000650587.1:c.*23C>A	ENSP00000497366.1:n.*23C>A
ENST00000368786.5:c.*23C>A	ENSP00000357775.1:n.*23C>A
ENST00000368797.8:c.*23C>A	ENSP00000357787.4:n.*23C>A
ENST00000464267.1:n.918C>A
ENST00000465577.5:n.463C>A
ENST00000470483.1:n.509C>A
ENST00000484541.5:n.594C>A
ENST00000616800.4:c.161-3585C>A
ENST00000622016.4:c.241-3006C>A	ENSP00000483041.1:n.241-3006C>A
NM_000375.2:c.*23C>A	NP_000366.1:n.*23C>A
XM_005270137.2:c.*23C>A	XP_005270194.1:n.*23C>A
XM_005270138.2:c.*23C>A	XP_005270195.1:n.*23C>A
XM_005270139.2:c.661-3006C>A	XP_005270196.1:n.661-3006C>A
XM_006717960.2:c.*23C>A	XP_006718023.1:n.*23C>A
XM_011540127.1:c.661-3585C>A	XP_011538429.1:n.661-3585C>A
XR_246103.2:n.1001C>A
XR_945810.1:n.1231C>A
NM_000375.3:c.*23C>A MANE Select	NP_000366.1:n.*23C>A
NM_001324036.1:c.*23C>A	NP_001310965.1:n.*23C>A
NM_001324037.1:c.*23C>A	NP_001310966.1:n.*23C>A
NM_001324038.1:c.*23C>A	NP_001310967.1:n.*23C>A
NR_136675.1:n.906C>A
NR_136676.1:n.1333C>A
NR_136677.1:n.927-3006C>A
NR_136678.1:n.817C>A
XM_011540127.2:c.661-3585C>A	XP_011538429.1:n.661-3585C>A
XM_017016611.2:c.*23C>A	XP_016872100.2:n.*23C>A
XM_017016612.2:c.661-3006C>A	XP_016872101.1:n.661-3006C>A
XM_024448154.1:c.*23C>A	XP_024303922.1:n.*23C>A
XR_002957010.1:n.2160C>A
XR_246103.3:n.1016C>A
XR_945810.2:n.1246C>A
NM_001324036.2:c.*23C>A	NP_001310965.1:n.*23C>A
NM_001324037.2:c.*23C>A	NP_001310966.1:n.*23C>A
NM_001324038.2:c.*23C>A	NP_001310967.1:n.*23C>A
NR_136675.2:n.896C>A
NR_136676.2:n.1323C>A
NR_136678.2:n.807C>A
NR_136677.2:n.917-3006C>A