Canonical Allele Identifier: CA340119

Gene: UROS

Linked Data

• ClinVar Variation Id: 3752
• ClinVar RCV Id: RCV000003950
• dbSNP Id: rs28941774
• MyVariant Identifiers: chr10:g.127503650G>A (hg19) ; chr10:g.125815081G>A (hg38)
• PubMed: PMID:1737856 ; PMID:24027798

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125815081G>A , CM000672.2:g.125815081G>A	GRCh38
NC_000010.10:g.127503650G>A , CM000672.1:g.127503650G>A	GRCh37
NC_000010.9:g.127493640G>A	NCBI36
NG_011557.1:g.13188C>T
NG_011557.2:g.13188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.197C>T	ENSP00000518871.1:p.Ala66Val
ENST00000368797.10:c.197C>T MANE Select	ENSP00000357787.4:p.Ala66Val
ENST00000648119.1:c.197C>T	ENSP00000497494.1:p.Ala66Val
ENST00000648427.1:c.197C>T	ENSP00000497909.1:p.Ala66Val
ENST00000649275.1:c.126C>T
ENST00000649450.1:n.234C>T
ENST00000649536.1:c.197C>T	ENSP00000497817.1:p.Ala66Val
ENST00000650524.1:c.2C>T	ENSP00000498108.1:p.Ala1Val
ENST00000650587.1:c.197C>T	ENSP00000497366.1:p.Ala66Val
ENST00000368774.1:c.197C>T	ENSP00000357763.1:p.Ala66Val
ENST00000368778.7:c.197C>T	ENSP00000357767.3:p.Ala66Val
ENST00000368786.5:c.197C>T	ENSP00000357775.1:p.Ala66Val
ENST00000368797.8:c.197C>T	ENSP00000357787.4:p.Ala66Val
ENST00000420761.5:c.113C>T	ENSP00000414833.1:p.Ala38Val
NM_000375.2:c.197C>T	NP_000366.1:p.Ala66Val
XM_005270137.2:c.197C>T	XP_005270194.1:p.Ala66Val
XM_005270138.2:c.197C>T	XP_005270195.1:p.Ala66Val
XM_005270139.2:c.197C>T	XP_005270196.1:p.Ala66Val
XM_005270140.3:c.197C>T	XP_005270197.1:p.Ala66Val
XM_005270141.1:c.197C>T	XP_005270198.1:p.Ala66Val
XM_006717960.2:c.197C>T	XP_006718023.1:p.Ala66Val
XM_011540126.1:c.197C>T	XP_011538428.1:p.Ala66Val
XM_011540127.1:c.197C>T	XP_011538429.1:p.Ala66Val
XR_246103.2:n.305C>T
XR_945809.1:n.305C>T
XR_945810.1:n.305C>T
NM_000375.3:c.197C>T MANE Select	NP_000366.1:p.Ala66Val
NM_001324036.1:c.197C>T	NP_001310965.1:p.Ala66Val
NM_001324037.1:c.197C>T	NP_001310966.1:p.Ala66Val
NM_001324038.1:c.197C>T	NP_001310967.1:p.Ala66Val
NM_001324039.1:c.197C>T	NP_001310968.1:p.Ala66Val
NR_136675.1:n.329+1356C>T
NR_136676.1:n.463C>T
NR_136677.1:n.463C>T
NR_136678.1:n.241-2793C>T
XM_005270140.5:c.197C>T	XP_005270197.1:p.Ala66Val
XM_011540127.2:c.197C>T	XP_011538429.1:p.Ala66Val
XM_017016611.2:c.197C>T	XP_016872100.2:p.Ala66Val
XM_017016612.2:c.197C>T	XP_016872101.1:p.Ala66Val
XM_024448154.1:c.197C>T	XP_024303922.1:p.Ala66Val
XM_024448155.1:c.197C>T	XP_024303923.1:p.Ala66Val
XR_001747196.2:n.320C>T
XR_001747197.2:n.320C>T
XR_002957009.1:n.320C>T
XR_002957010.1:n.261C>T
XR_246103.3:n.320C>T
XR_945810.2:n.320C>T
NM_001324036.2:c.197C>T	NP_001310965.1:p.Ala66Val
NM_001324037.2:c.197C>T	NP_001310966.1:p.Ala66Val
NM_001324038.2:c.197C>T	NP_001310967.1:p.Ala66Val
NR_136675.2:n.319+1356C>T
NR_136676.2:n.453C>T
NR_136678.2:n.231-2793C>T
NM_001324039.2:c.197C>T	NP_001310968.1:p.Ala66Val
NR_136677.2:n.453C>T