Canonical Allele Identifier: CA2611367097

Gene: UROS

Linked Data

• gnomAD v4: 10-125823129-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823129A>C , CM000672.2:g.125823129A>C	GRCh38
NC_000010.10:g.127511698A>C , CM000672.1:g.127511698A>C	GRCh37
NC_000010.9:g.127501688A>C	NCBI36
NG_011557.1:g.5140T>G
NG_029095.1:g.4595A>C
NG_011557.2:g.5140T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.-127T>G	ENSP00000518871.1:n.-127T>G
ENST00000368797.10:c.-127T>G MANE Select	ENSP00000357787.4:n.-127T>G
ENST00000648119.1:c.-127T>G	ENSP00000497494.1:n.-127T>G
ENST00000648427.1:c.-127T>G	ENSP00000497909.1:n.-127T>G
ENST00000649536.1:c.-127T>G	ENSP00000497817.1:n.-127T>G
ENST00000368778.7:c.-127T>G	ENSP00000357767.3:n.-127T>G
ENST00000368797.8:c.-127T>G	ENSP00000357787.4:n.-127T>G
ENST00000420761.5:c.-127T>G	ENSP00000414833.1:n.-127T>G
NM_000375.2:c.-127T>G	NP_000366.1:n.-127T>G
XM_006717960.2:c.-27+78T>G	XP_006718023.1:n.-27+78T>G
NM_000375.3:c.-127T>G MANE Select	NP_000366.1:n.-127T>G
NM_001324036.1:c.-127T>G	NP_001310965.1:n.-127T>G
NM_001324037.1:c.-127T>G	NP_001310966.1:n.-127T>G
NM_001324038.1:c.-127T>G	NP_001310967.1:n.-127T>G
NM_001324039.1:c.-127T>G	NP_001310968.1:n.-127T>G
NR_136675.1:n.140T>G
NR_136676.1:n.140T>G
NR_136677.1:n.140T>G
NR_136678.1:n.140T>G
XM_017016611.2:c.-27+78T>G	XP_016872100.2:n.-27+78T>G
XM_024448154.1:c.-27+78T>G	XP_024303922.1:n.-27+78T>G
XM_024448155.1:c.-127T>G	XP_024303923.1:n.-127T>G
XR_002957010.1:n.38+78T>G
NM_001324036.2:c.-127T>G	NP_001310965.1:n.-127T>G
NM_001324037.2:c.-127T>G	NP_001310966.1:n.-127T>G
NM_001324038.2:c.-127T>G	NP_001310967.1:n.-127T>G
NR_136675.2:n.130T>G
NR_136676.2:n.130T>G
NR_136678.2:n.130T>G
NM_001324039.2:c.-127T>G	NP_001310968.1:n.-127T>G
NR_136677.2:n.130T>G