Canonical Allele Identifier: CA10631191

Gene: UROS

Linked Data

• ClinVar Variation Id: 299197
• ClinVar RCV Id: RCV000309126
• dbSNP Id: rs539482783
• gnomAD v2: 10-127511707-G-A
• gnomAD v3: 10-125823138-G-A
• gnomAD v4: 10-125823138-G-A
• MyVariant Identifiers: chr10:g.127511707G>A (hg19) ; chr10:g.125823138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823138G>A , CM000672.2:g.125823138G>A	GRCh38
NC_000010.10:g.127511707G>A , CM000672.1:g.127511707G>A	GRCh37
NC_000010.9:g.127501697G>A	NCBI36
NG_011557.1:g.5131C>T
NG_029095.1:g.4604G>A
NG_011557.2:g.5131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.-136C>T	ENSP00000518871.1:n.-136C>T
ENST00000368797.10:c.-136C>T MANE Select	ENSP00000357787.4:n.-136C>T
ENST00000648119.1:c.-136C>T	ENSP00000497494.1:n.-136C>T
ENST00000648427.1:c.-136C>T	ENSP00000497909.1:n.-136C>T
ENST00000649536.1:c.-136C>T	ENSP00000497817.1:n.-136C>T
ENST00000368778.7:c.-136C>T	ENSP00000357767.3:n.-136C>T
ENST00000368797.8:c.-136C>T	ENSP00000357787.4:n.-136C>T
ENST00000420761.5:c.-136C>T	ENSP00000414833.1:n.-136C>T
NM_000375.2:c.-136C>T	NP_000366.1:n.-136C>T
XM_006717960.2:c.-27+69C>T	XP_006718023.1:n.-27+69C>T
NM_000375.3:c.-136C>T MANE Select	NP_000366.1:n.-136C>T
NM_001324036.1:c.-136C>T	NP_001310965.1:n.-136C>T
NM_001324037.1:c.-136C>T	NP_001310966.1:n.-136C>T
NM_001324038.1:c.-136C>T	NP_001310967.1:n.-136C>T
NM_001324039.1:c.-136C>T	NP_001310968.1:n.-136C>T
NR_136675.1:n.131C>T
NR_136676.1:n.131C>T
NR_136677.1:n.131C>T
NR_136678.1:n.131C>T
XM_017016611.2:c.-27+69C>T	XP_016872100.2:n.-27+69C>T
XM_024448154.1:c.-27+69C>T	XP_024303922.1:n.-27+69C>T
XM_024448155.1:c.-136C>T	XP_024303923.1:n.-136C>T
XR_002957010.1:n.38+69C>T
NM_001324036.2:c.-136C>T	NP_001310965.1:n.-136C>T
NM_001324037.2:c.-136C>T	NP_001310966.1:n.-136C>T
NM_001324038.2:c.-136C>T	NP_001310967.1:n.-136C>T
NR_136675.2:n.121C>T
NR_136676.2:n.121C>T
NR_136678.2:n.121C>T
NM_001324039.2:c.-136C>T	NP_001310968.1:n.-136C>T
NR_136677.2:n.121C>T