Canonical Allele Identifier: CA2611367399

Gene: UROS

Linked Data

• gnomAD v4: 10-125823233-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823233G>A , CM000672.2:g.125823233G>A	GRCh38
NC_000010.10:g.127511802G>A , CM000672.1:g.127511802G>A	GRCh37
NC_000010.9:g.127501792G>A	NCBI36
NG_011557.1:g.5036C>T
NG_029095.1:g.4699G>A
NG_011557.2:g.5036C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.-231C>T	ENSP00000518871.1:n.-231C>T
ENST00000368797.10:c.-231C>T MANE Select	ENSP00000357787.4:n.-231C>T
ENST00000420761.5:c.-231C>T	ENSP00000414833.1:n.-231C>T
NM_000375.2:c.-231C>T	NP_000366.1:n.-231C>T
XM_006717960.2:c.-53C>T	XP_006718023.1:n.-53C>T
NM_000375.3:c.-231C>T MANE Select	NP_000366.1:n.-231C>T
NM_001324036.1:c.-231C>T	NP_001310965.1:n.-231C>T
NM_001324037.1:c.-231C>T	NP_001310966.1:n.-231C>T
NM_001324038.1:c.-231C>T	NP_001310967.1:n.-231C>T
NM_001324039.1:c.-231C>T	NP_001310968.1:n.-231C>T
NR_136675.1:n.36C>T
NR_136676.1:n.36C>T
NR_136677.1:n.36C>T
NR_136678.1:n.36C>T
XM_017016611.2:c.-53C>T	XP_016872100.2:n.-53C>T
XM_024448154.1:c.-53C>T	XP_024303922.1:n.-53C>T
XM_024448155.1:c.-231C>T	XP_024303923.1:n.-231C>T
XR_002957010.1:n.12C>T
NM_001324036.2:c.-231C>T	NP_001310965.1:n.-231C>T
NM_001324037.2:c.-231C>T	NP_001310966.1:n.-231C>T
NM_001324038.2:c.-231C>T	NP_001310967.1:n.-231C>T
NR_136675.2:n.26C>T
NR_136676.2:n.26C>T
NR_136678.2:n.26C>T
NM_001324039.2:c.-231C>T	NP_001310968.1:n.-231C>T
NR_136677.2:n.26C>T