Canonical Allele Identifier: CA5738365

Gene: UROS

Linked Data

• dbSNP Id: rs755842053
• ExAC: 10:127483460 C / G
• gnomAD v2: 10-127483460-C-G
• gnomAD v3: 10-125794891-C-G
• gnomAD v4: 10-125794891-C-G
• MyVariant Identifiers: chr10:g.127483460C>G (hg19) ; chr10:g.125794891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125794891C>G , CM000672.2:g.125794891C>G	GRCh38
NC_000010.10:g.127483460C>G , CM000672.1:g.127483460C>G	GRCh37
NC_000010.9:g.127473450C>G	NCBI36
NG_011557.1:g.33378G>C
NG_011557.2:g.33378G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.649G>C	ENSP00000518871.1:p.Asp217His
ENST00000368797.10:c.649G>C MANE Select	ENSP00000357787.4:p.Asp217His
ENST00000465577.6:c.423G>C
ENST00000648119.1:c.*238G>C	ENSP00000497494.1:n.*238G>C
ENST00000648427.1:c.*401G>C	ENSP00000497909.1:n.*401G>C
ENST00000649536.1:c.568G>C	ENSP00000497817.1:p.Asp190His
ENST00000650185.1:c.432G>C
ENST00000650472.1:n.3035G>C
ENST00000650524.1:c.562G>C	ENSP00000498108.1:n.562G>C
ENST00000650587.1:c.649G>C	ENSP00000497366.1:p.Asp217His
ENST00000368786.5:c.649G>C	ENSP00000357775.1:p.Asp217His
ENST00000368797.8:c.649G>C	ENSP00000357787.4:p.Asp217His
ENST00000462490.5:c.308G>C
ENST00000464267.1:n.213G>C
ENST00000465577.5:n.210G>C
ENST00000470483.1:n.337G>C
ENST00000484541.5:n.176G>C
ENST00000616800.4:c.149G>C
ENST00000622016.4:c.229G>C	ENSP00000483041.1:p.Asp77His
NM_000375.2:c.649G>C	NP_000366.1:p.Asp217His
XM_005270137.2:c.649G>C	XP_005270194.1:p.Asp217His
XM_005270138.2:c.568G>C	XP_005270195.1:p.Asp190His
XM_005270139.2:c.649G>C	XP_005270196.1:p.Asp217His
XM_005270140.3:c.649G>C	XP_005270197.1:p.Asp217His
XM_006717960.2:c.649G>C	XP_006718023.1:p.Asp217His
XM_011540126.1:c.649G>C	XP_011538428.1:p.Asp217His
XM_011540127.1:c.649G>C	XP_011538429.1:p.Asp217His
XR_246103.2:n.829G>C
XR_945809.1:n.757G>C
XR_945810.1:n.1059G>C
NM_000375.3:c.649G>C MANE Select	NP_000366.1:p.Asp217His
NM_001324036.1:c.649G>C	NP_001310965.1:p.Asp217His
NM_001324037.1:c.568G>C	NP_001310966.1:p.Asp190His
NM_001324038.1:c.568G>C	NP_001310967.1:p.Asp190His
NR_136675.1:n.734G>C
NR_136676.1:n.915G>C
NR_136677.1:n.915G>C
NR_136678.1:n.645G>C
XM_005270140.5:c.649G>C	XP_005270197.1:p.Asp217His
XM_011540127.2:c.649G>C	XP_011538429.1:p.Asp217His
XM_017016611.2:c.649G>C	XP_016872100.2:p.Asp217His
XM_017016612.2:c.649G>C	XP_016872101.1:p.Asp217His
XM_024448154.1:c.649G>C	XP_024303922.1:p.Asp217His
XM_024448155.1:c.568G>C	XP_024303923.1:p.Asp190His
XR_001747196.2:n.772G>C
XR_001747197.2:n.844G>C
XR_002957009.1:n.772G>C
XR_002957010.1:n.1988G>C
XR_246103.3:n.844G>C
XR_945810.2:n.1074G>C
NM_001324036.2:c.649G>C	NP_001310965.1:p.Asp217His
NM_001324037.2:c.568G>C	NP_001310966.1:p.Asp190His
NM_001324038.2:c.568G>C	NP_001310967.1:p.Asp190His
NR_136675.2:n.724G>C
NR_136676.2:n.905G>C
NR_136678.2:n.635G>C
NR_136677.2:n.905G>C