Canonical Allele Identifier: CA215338479

Gene: UROS

Linked Data

• ClinVar Variation Id: 764345
• ClinVar RCV Id: RCV000942678
• dbSNP Id: rs999231093
• gnomAD v2: 10-127483555-G-C
• gnomAD v3: 10-125794986-G-C
• gnomAD v4: 10-125794986-G-C
• MyVariant Identifiers: chr10:g.127483555G>C (hg19) ; chr10:g.125794986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125794986G>C , CM000672.2:g.125794986G>C	GRCh38
NC_000010.10:g.127483555G>C , CM000672.1:g.127483555G>C	GRCh37
NC_000010.9:g.127473545G>C	NCBI36
NG_011557.1:g.33283C>G
NG_011557.2:g.33283C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.562-8C>G	ENSP00000518871.1:n.562-8C>G
ENST00000368797.10:c.562-8C>G MANE Select	ENSP00000357787.4:n.562-8C>G
ENST00000465577.6:c.336-8C>G
ENST00000648119.1:c.*151-8C>G	ENSP00000497494.1:n.*151-8C>G
ENST00000648427.1:c.*314-8C>G	ENSP00000497909.1:n.*314-8C>G
ENST00000649275.1:c.577-8C>G
ENST00000649536.1:c.481-8C>G	ENSP00000497817.1:n.481-8C>G
ENST00000650185.1:c.345-8C>G
ENST00000650472.1:n.2948-8C>G
ENST00000650524.1:c.475-8C>G	ENSP00000498108.1:n.475-8C>G
ENST00000650587.1:c.562-8C>G	ENSP00000497366.1:n.562-8C>G
ENST00000368786.5:c.562-8C>G	ENSP00000357775.1:n.562-8C>G
ENST00000368797.8:c.562-8C>G	ENSP00000357787.4:n.562-8C>G
ENST00000420761.5:c.478-8C>G	ENSP00000414833.1:n.478-8C>G
ENST00000462490.5:c.221-8C>G
ENST00000464267.1:n.126-8C>G
ENST00000465577.5:n.123-8C>G
ENST00000470483.1:n.242C>G
ENST00000484541.5:n.89-8C>G
ENST00000616800.4:c.62-8C>G
ENST00000622016.4:c.142-8C>G	ENSP00000483041.1:n.142-8C>G
NM_000375.2:c.562-8C>G	NP_000366.1:n.562-8C>G
XM_005270137.2:c.562-8C>G	XP_005270194.1:n.562-8C>G
XM_005270138.2:c.481-8C>G	XP_005270195.1:n.481-8C>G
XM_005270139.2:c.562-8C>G	XP_005270196.1:n.562-8C>G
XM_005270140.3:c.562-8C>G	XP_005270197.1:n.562-8C>G
XM_006717960.2:c.562-8C>G	XP_006718023.1:n.562-8C>G
XM_011540126.1:c.562-8C>G	XP_011538428.1:n.562-8C>G
XM_011540127.1:c.562-8C>G	XP_011538429.1:n.562-8C>G
XR_246103.2:n.742-8C>G
XR_945809.1:n.670-8C>G
XR_945810.1:n.972-8C>G
NM_000375.3:c.562-8C>G MANE Select	NP_000366.1:n.562-8C>G
NM_001324036.1:c.562-8C>G	NP_001310965.1:n.562-8C>G
NM_001324037.1:c.481-8C>G	NP_001310966.1:n.481-8C>G
NM_001324038.1:c.481-8C>G	NP_001310967.1:n.481-8C>G
NR_136675.1:n.647-8C>G
NR_136676.1:n.828-8C>G
NR_136677.1:n.828-8C>G
NR_136678.1:n.558-8C>G
XM_005270140.5:c.562-8C>G	XP_005270197.1:n.562-8C>G
XM_011540127.2:c.562-8C>G	XP_011538429.1:n.562-8C>G
XM_017016611.2:c.562-8C>G	XP_016872100.2:n.562-8C>G
XM_017016612.2:c.562-8C>G	XP_016872101.1:n.562-8C>G
XM_024448154.1:c.562-8C>G	XP_024303922.1:n.562-8C>G
XM_024448155.1:c.481-8C>G	XP_024303923.1:n.481-8C>G
XR_001747196.2:n.685-8C>G
XR_001747197.2:n.757-8C>G
XR_002957009.1:n.685-8C>G
XR_002957010.1:n.1901-8C>G
XR_246103.3:n.757-8C>G
XR_945810.2:n.987-8C>G
NM_001324036.2:c.562-8C>G	NP_001310965.1:n.562-8C>G
NM_001324037.2:c.481-8C>G	NP_001310966.1:n.481-8C>G
NM_001324038.2:c.481-8C>G	NP_001310967.1:n.481-8C>G
NR_136675.2:n.637-8C>G
NR_136676.2:n.818-8C>G
NR_136678.2:n.548-8C>G
NR_136677.2:n.818-8C>G