Canonical Allele Identifier: CA2611361971

Gene: UROS

Linked Data

• gnomAD v4: 10-125788688-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788688C>A , CM000672.2:g.125788688C>A	GRCh38
NC_000010.10:g.127477257C>A , CM000672.1:g.127477257C>A	GRCh37
NC_000010.9:g.127467247C>A	NCBI36
NG_011557.1:g.39581G>T
NG_011557.2:g.39581G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*180G>T	ENSP00000518871.1:n.*180G>T
ENST00000368797.10:c.*180G>T MANE Select	ENSP00000357787.4:n.*180G>T
ENST00000465577.6:c.998G>T
ENST00000648427.1:c.*976G>T	ENSP00000497909.1:n.*976G>T
ENST00000649536.1:c.*180G>T	ENSP00000497817.1:n.*180G>T
ENST00000650472.1:n.3364G>T
ENST00000650524.1:c.891G>T	ENSP00000498108.1:n.891G>T
ENST00000650587.1:c.*180G>T	ENSP00000497366.1:n.*180G>T
ENST00000368786.5:c.*180G>T	ENSP00000357775.1:n.*180G>T
ENST00000368797.8:c.*180G>T	ENSP00000357787.4:n.*180G>T
ENST00000465577.5:n.620G>T
ENST00000470483.1:n.666G>T
ENST00000484541.5:n.751G>T
ENST00000616800.4:c.161-3428G>T
ENST00000622016.4:c.241-2849G>T	ENSP00000483041.1:n.241-2849G>T
NM_000375.2:c.*180G>T	NP_000366.1:n.*180G>T
XM_005270137.2:c.*180G>T	XP_005270194.1:n.*180G>T
XM_005270138.2:c.*180G>T	XP_005270195.1:n.*180G>T
XM_005270139.2:c.661-2849G>T	XP_005270196.1:n.661-2849G>T
XM_006717960.2:c.*180G>T	XP_006718023.1:n.*180G>T
XM_011540127.1:c.661-3428G>T	XP_011538429.1:n.661-3428G>T
XR_246103.2:n.1158G>T
XR_945810.1:n.1388G>T
NM_000375.3:c.*180G>T MANE Select	NP_000366.1:n.*180G>T
NM_001324036.1:c.*180G>T	NP_001310965.1:n.*180G>T
NM_001324037.1:c.*180G>T	NP_001310966.1:n.*180G>T
NM_001324038.1:c.*180G>T	NP_001310967.1:n.*180G>T
NR_136675.1:n.1063G>T
NR_136676.1:n.1490G>T
NR_136677.1:n.927-2849G>T
NR_136678.1:n.974G>T
XM_011540127.2:c.661-3428G>T	XP_011538429.1:n.661-3428G>T
XM_017016611.2:c.*180G>T	XP_016872100.2:n.*180G>T
XM_017016612.2:c.661-2849G>T	XP_016872101.1:n.661-2849G>T
XM_024448154.1:c.*180G>T	XP_024303922.1:n.*180G>T
XR_002957010.1:n.2317G>T
XR_246103.3:n.1173G>T
XR_945810.2:n.1403G>T
NM_001324036.2:c.*180G>T	NP_001310965.1:n.*180G>T
NM_001324037.2:c.*180G>T	NP_001310966.1:n.*180G>T
NM_001324038.2:c.*180G>T	NP_001310967.1:n.*180G>T
NR_136675.2:n.1053G>T
NR_136676.2:n.1480G>T
NR_136678.2:n.964G>T
NR_136677.2:n.917-2849G>T