Canonical Allele Identifier: CA5738318

Gene: UROS

Linked Data

• ClinVar Variation Id: 1452604
• ClinVar RCV Id: RCV001999894
• dbSNP Id: rs777433697
• ExAC: 10:127477525 A / G
• gnomAD v2: 10-127477525-A-G
• gnomAD v3: 10-125788956-A-G
• gnomAD v4: 10-125788956-A-G
• MyVariant Identifiers: chr10:g.127477525A>G (hg19) ; chr10:g.125788956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788956A>G , CM000672.2:g.125788956A>G	GRCh38
NC_000010.10:g.127477525A>G , CM000672.1:g.127477525A>G	GRCh37
NC_000010.9:g.127467515A>G	NCBI36
NG_011557.1:g.39313T>C
NG_011557.2:g.39313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.710T>C	ENSP00000518871.1:p.Leu237Pro
ENST00000368797.10:c.710T>C MANE Select	ENSP00000357787.4:p.Leu237Pro
ENST00000465577.6:c.730T>C
ENST00000648427.1:c.*708T>C	ENSP00000497909.1:n.*708T>C
ENST00000649536.1:c.710T>C	ENSP00000497817.1:p.Leu237Pro
ENST00000650185.1:c.860T>C
ENST00000650472.1:n.3096T>C
ENST00000650524.1:c.623T>C	ENSP00000498108.1:n.623T>C
ENST00000650587.1:c.791T>C	ENSP00000497366.1:p.Leu264Pro
ENST00000368786.5:c.710T>C	ENSP00000357775.1:p.Leu237Pro
ENST00000368797.8:c.710T>C	ENSP00000357787.4:p.Leu237Pro
ENST00000464267.1:n.807T>C
ENST00000465577.5:n.352T>C
ENST00000470483.1:n.398T>C
ENST00000484541.5:n.483T>C
ENST00000616800.4:c.161-3696T>C
ENST00000622016.4:c.241-3117T>C	ENSP00000483041.1:n.241-3117T>C
NM_000375.2:c.710T>C	NP_000366.1:p.Leu237Pro
XM_005270137.2:c.791T>C	XP_005270194.1:p.Leu264Pro
XM_005270138.2:c.710T>C	XP_005270195.1:p.Leu237Pro
XM_005270139.2:c.661-3117T>C	XP_005270196.1:n.661-3117T>C
XM_006717960.2:c.791T>C	XP_006718023.1:p.Leu264Pro
XM_011540127.1:c.661-3696T>C	XP_011538429.1:n.661-3696T>C
XR_246103.2:n.890T>C
XR_945810.1:n.1120T>C
NM_000375.3:c.710T>C MANE Select	NP_000366.1:p.Leu237Pro
NM_001324036.1:c.791T>C	NP_001310965.1:p.Leu264Pro
NM_001324037.1:c.710T>C	NP_001310966.1:p.Leu237Pro
NM_001324038.1:c.629T>C	NP_001310967.1:p.Leu210Pro
NR_136675.1:n.795T>C
NR_136676.1:n.1222T>C
NR_136677.1:n.927-3117T>C
NR_136678.1:n.706T>C
XM_011540127.2:c.661-3696T>C	XP_011538429.1:n.661-3696T>C
XM_017016611.2:c.791T>C	XP_016872100.2:p.Leu264Pro
XM_017016612.2:c.661-3117T>C	XP_016872101.1:n.661-3117T>C
XM_024448154.1:c.710T>C	XP_024303922.1:p.Leu237Pro
XR_002957010.1:n.2049T>C
XR_246103.3:n.905T>C
XR_945810.2:n.1135T>C
NM_001324036.2:c.791T>C	NP_001310965.1:p.Leu264Pro
NM_001324037.2:c.710T>C	NP_001310966.1:p.Leu237Pro
NM_001324038.2:c.629T>C	NP_001310967.1:p.Leu210Pro
NR_136675.2:n.785T>C
NR_136676.2:n.1212T>C
NR_136678.2:n.696T>C
NR_136677.2:n.917-3117T>C