Canonical Allele Identifier: CA378685904

Gene: UROS

Linked Data

• dbSNP Id: rs1460260444
• gnomAD v2: 10-127477565-T-C
• gnomAD v3: 10-125788996-T-C
• gnomAD v4: 10-125788996-T-C
• MyVariant Identifiers: chr10:g.127477565T>C (hg19) ; chr10:g.125788996T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788996T>C , CM000672.2:g.125788996T>C	GRCh38
NC_000010.10:g.127477565T>C , CM000672.1:g.127477565T>C	GRCh37
NC_000010.9:g.127467555T>C	NCBI36
NG_011557.1:g.39273A>G
NG_011557.2:g.39273A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.670A>G	ENSP00000518871.1:p.Ile224Val
ENST00000368797.10:c.670A>G MANE Select	ENSP00000357787.4:p.Ile224Val
ENST00000465577.6:c.690A>G
ENST00000648427.1:c.*668A>G	ENSP00000497909.1:n.*668A>G
ENST00000649536.1:c.670A>G	ENSP00000497817.1:p.Ile224Val
ENST00000650185.1:c.820A>G
ENST00000650472.1:n.3056A>G
ENST00000650524.1:c.583A>G	ENSP00000498108.1:n.583A>G
ENST00000650587.1:c.751A>G	ENSP00000497366.1:p.Ile251Val
ENST00000368786.5:c.670A>G	ENSP00000357775.1:p.Ile224Val
ENST00000368797.8:c.670A>G	ENSP00000357787.4:p.Ile224Val
ENST00000464267.1:n.767A>G
ENST00000465577.5:n.312A>G
ENST00000470483.1:n.358A>G
ENST00000484541.5:n.443A>G
ENST00000616800.4:c.161-3736A>G
ENST00000622016.4:c.241-3157A>G	ENSP00000483041.1:n.241-3157A>G
NM_000375.2:c.670A>G	NP_000366.1:p.Ile224Val
XM_005270137.2:c.751A>G	XP_005270194.1:p.Ile251Val
XM_005270138.2:c.670A>G	XP_005270195.1:p.Ile224Val
XM_005270139.2:c.661-3157A>G	XP_005270196.1:n.661-3157A>G
XM_006717960.2:c.751A>G	XP_006718023.1:p.Ile251Val
XM_011540127.1:c.661-3736A>G	XP_011538429.1:n.661-3736A>G
XR_246103.2:n.850A>G
XR_945810.1:n.1080A>G
NM_000375.3:c.670A>G MANE Select	NP_000366.1:p.Ile224Val
NM_001324036.1:c.751A>G	NP_001310965.1:p.Ile251Val
NM_001324037.1:c.670A>G	NP_001310966.1:p.Ile224Val
NM_001324038.1:c.589A>G	NP_001310967.1:p.Ile197Val
NR_136675.1:n.755A>G
NR_136676.1:n.1182A>G
NR_136677.1:n.927-3157A>G
NR_136678.1:n.666A>G
XM_011540127.2:c.661-3736A>G	XP_011538429.1:n.661-3736A>G
XM_017016611.2:c.751A>G	XP_016872100.2:p.Ile251Val
XM_017016612.2:c.661-3157A>G	XP_016872101.1:n.661-3157A>G
XM_024448154.1:c.670A>G	XP_024303922.1:p.Ile224Val
XR_002957010.1:n.2009A>G
XR_246103.3:n.865A>G
XR_945810.2:n.1095A>G
NM_001324036.2:c.751A>G	NP_001310965.1:p.Ile251Val
NM_001324037.2:c.670A>G	NP_001310966.1:p.Ile224Val
NM_001324038.2:c.589A>G	NP_001310967.1:p.Ile197Val
NR_136675.2:n.745A>G
NR_136676.2:n.1172A>G
NR_136678.2:n.656A>G
NR_136677.2:n.917-3157A>G