Canonical Allele Identifier: CA2611362048

Gene: UROS

Linked Data

• gnomAD v4: 10-125788783-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788783C>A , CM000672.2:g.125788783C>A	GRCh38
NC_000010.10:g.127477352C>A , CM000672.1:g.127477352C>A	GRCh37
NC_000010.9:g.127467342C>A	NCBI36
NG_011557.1:g.39486G>T
NG_011557.2:g.39486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*85G>T	ENSP00000518871.1:n.*85G>T
ENST00000368797.10:c.*85G>T MANE Select	ENSP00000357787.4:n.*85G>T
ENST00000465577.6:c.903G>T
ENST00000648427.1:c.*881G>T	ENSP00000497909.1:n.*881G>T
ENST00000649536.1:c.*85G>T	ENSP00000497817.1:n.*85G>T
ENST00000650472.1:n.3269G>T
ENST00000650524.1:c.796G>T	ENSP00000498108.1:n.796G>T
ENST00000650587.1:c.*85G>T	ENSP00000497366.1:n.*85G>T
ENST00000368786.5:c.*85G>T	ENSP00000357775.1:n.*85G>T
ENST00000368797.8:c.*85G>T	ENSP00000357787.4:n.*85G>T
ENST00000464267.1:n.980G>T
ENST00000465577.5:n.525G>T
ENST00000470483.1:n.571G>T
ENST00000484541.5:n.656G>T
ENST00000616800.4:c.161-3523G>T
ENST00000622016.4:c.241-2944G>T	ENSP00000483041.1:n.241-2944G>T
NM_000375.2:c.*85G>T	NP_000366.1:n.*85G>T
XM_005270137.2:c.*85G>T	XP_005270194.1:n.*85G>T
XM_005270138.2:c.*85G>T	XP_005270195.1:n.*85G>T
XM_005270139.2:c.661-2944G>T	XP_005270196.1:n.661-2944G>T
XM_006717960.2:c.*85G>T	XP_006718023.1:n.*85G>T
XM_011540127.1:c.661-3523G>T	XP_011538429.1:n.661-3523G>T
XR_246103.2:n.1063G>T
XR_945810.1:n.1293G>T
NM_000375.3:c.*85G>T MANE Select	NP_000366.1:n.*85G>T
NM_001324036.1:c.*85G>T	NP_001310965.1:n.*85G>T
NM_001324037.1:c.*85G>T	NP_001310966.1:n.*85G>T
NM_001324038.1:c.*85G>T	NP_001310967.1:n.*85G>T
NR_136675.1:n.968G>T
NR_136676.1:n.1395G>T
NR_136677.1:n.927-2944G>T
NR_136678.1:n.879G>T
XM_011540127.2:c.661-3523G>T	XP_011538429.1:n.661-3523G>T
XM_017016611.2:c.*85G>T	XP_016872100.2:n.*85G>T
XM_017016612.2:c.661-2944G>T	XP_016872101.1:n.661-2944G>T
XM_024448154.1:c.*85G>T	XP_024303922.1:n.*85G>T
XR_002957010.1:n.2222G>T
XR_246103.3:n.1078G>T
XR_945810.2:n.1308G>T
NM_001324036.2:c.*85G>T	NP_001310965.1:n.*85G>T
NM_001324037.2:c.*85G>T	NP_001310966.1:n.*85G>T
NM_001324038.2:c.*85G>T	NP_001310967.1:n.*85G>T
NR_136675.2:n.958G>T
NR_136676.2:n.1385G>T
NR_136678.2:n.869G>T
NR_136677.2:n.917-2944G>T