Canonical Allele Identifier: CA378685985

Gene: UROS

Linked Data

• dbSNP Id: rs1334872857
• MyVariant Identifiers: chr10:g.127483447A>G (hg19) ; chr10:g.125794878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125794878A>G , CM000672.2:g.125794878A>G	GRCh38
NC_000010.10:g.127483447A>G , CM000672.1:g.127483447A>G	GRCh37
NC_000010.9:g.127473437A>G	NCBI36
NG_011557.1:g.33391T>C
NG_011557.2:g.33391T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.660+2T>C	ENSP00000518871.1:n.660+2T>C
ENST00000368797.10:c.660+2T>C MANE Select	ENSP00000357787.4:n.660+2T>C
ENST00000465577.6:c.434+2T>C
ENST00000648119.1:c.*249+2T>C	ENSP00000497494.1:n.*249+2T>C
ENST00000648427.1:c.*412+2T>C	ENSP00000497909.1:n.*412+2T>C
ENST00000649536.1:c.579+2T>C	ENSP00000497817.1:n.579+2T>C
ENST00000650185.1:c.443+2T>C
ENST00000650472.1:n.3046+2T>C
ENST00000650524.1:c.573+2T>C	ENSP00000498108.1:n.573+2T>C
ENST00000650587.1:c.660+2T>C	ENSP00000497366.1:n.660+2T>C
ENST00000368786.5:c.660+2T>C	ENSP00000357775.1:n.660+2T>C
ENST00000368797.8:c.660+2T>C	ENSP00000357787.4:n.660+2T>C
ENST00000462490.5:c.319+2T>C
ENST00000464267.1:n.224+2T>C
ENST00000465577.5:n.221+2T>C
ENST00000470483.1:n.348+2T>C
ENST00000484541.5:n.187+2T>C
ENST00000616800.4:c.160+2T>C
ENST00000622016.4:c.240+2T>C	ENSP00000483041.1:n.240+2T>C
NM_000375.2:c.660+2T>C	NP_000366.1:n.660+2T>C
XM_005270137.2:c.660+2T>C	XP_005270194.1:n.660+2T>C
XM_005270138.2:c.579+2T>C	XP_005270195.1:n.579+2T>C
XM_005270139.2:c.660+2T>C	XP_005270196.1:n.660+2T>C
XM_005270140.3:c.660+2T>C	XP_005270197.1:n.660+2T>C
XM_006717960.2:c.660+2T>C	XP_006718023.1:n.660+2T>C
XM_011540126.1:c.660+2T>C	XP_011538428.1:n.660+2T>C
XM_011540127.1:c.660+2T>C	XP_011538429.1:n.660+2T>C
XR_246103.2:n.840+2T>C
XR_945809.1:n.768+2T>C
XR_945810.1:n.1070+2T>C
NM_000375.3:c.660+2T>C MANE Select	NP_000366.1:n.660+2T>C
NM_001324036.1:c.660+2T>C	NP_001310965.1:n.660+2T>C
NM_001324037.1:c.579+2T>C	NP_001310966.1:n.579+2T>C
NM_001324038.1:c.579+2T>C	NP_001310967.1:n.579+2T>C
NR_136675.1:n.745+2T>C
NR_136676.1:n.926+2T>C
NR_136677.1:n.926+2T>C
NR_136678.1:n.656+2T>C
XM_005270140.5:c.660+2T>C	XP_005270197.1:n.660+2T>C
XM_011540127.2:c.660+2T>C	XP_011538429.1:n.660+2T>C
XM_017016611.2:c.660+2T>C	XP_016872100.2:n.660+2T>C
XM_017016612.2:c.660+2T>C	XP_016872101.1:n.660+2T>C
XM_024448154.1:c.660+2T>C	XP_024303922.1:n.660+2T>C
XM_024448155.1:c.579+2T>C	XP_024303923.1:n.579+2T>C
XR_001747196.2:n.783+2T>C
XR_001747197.2:n.855+2T>C
XR_002957009.1:n.783+2T>C
XR_002957010.1:n.1999+2T>C
XR_246103.3:n.855+2T>C
XR_945810.2:n.1085+2T>C
NM_001324036.2:c.660+2T>C	NP_001310965.1:n.660+2T>C
NM_001324037.2:c.579+2T>C	NP_001310966.1:n.579+2T>C
NM_001324038.2:c.579+2T>C	NP_001310967.1:n.579+2T>C
NR_136675.2:n.735+2T>C
NR_136676.2:n.916+2T>C
NR_136678.2:n.646+2T>C
NR_136677.2:n.916+2T>C