Canonical Allele Identifier: CA378685586

Gene: UROS

Linked Data

• gnomAD v4: 10-125788903-T-C
• MyVariant Identifiers: chr10:g.127477472T>C (hg19) ; chr10:g.125788903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788903T>C , CM000672.2:g.125788903T>C	GRCh38
NC_000010.10:g.127477472T>C , CM000672.1:g.127477472T>C	GRCh37
NC_000010.9:g.127467462T>C	NCBI36
NG_011557.1:g.39366A>G
NG_011557.2:g.39366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.763A>G	ENSP00000518871.1:p.Ile255Val
ENST00000368797.10:c.763A>G MANE Select	ENSP00000357787.4:p.Ile255Val
ENST00000465577.6:c.783A>G
ENST00000648427.1:c.*761A>G	ENSP00000497909.1:n.*761A>G
ENST00000649536.1:c.763A>G	ENSP00000497817.1:p.Ile255Val
ENST00000650472.1:n.3149A>G
ENST00000650524.1:c.676A>G	ENSP00000498108.1:n.676A>G
ENST00000650587.1:c.844A>G	ENSP00000497366.1:p.Ile282Val
ENST00000368786.5:c.763A>G	ENSP00000357775.1:p.Ile255Val
ENST00000368797.8:c.763A>G	ENSP00000357787.4:p.Ile255Val
ENST00000464267.1:n.860A>G
ENST00000465577.5:n.405A>G
ENST00000470483.1:n.451A>G
ENST00000484541.5:n.536A>G
ENST00000616800.4:c.161-3643A>G
ENST00000622016.4:c.241-3064A>G	ENSP00000483041.1:n.241-3064A>G
NM_000375.2:c.763A>G	NP_000366.1:p.Ile255Val
XM_005270137.2:c.844A>G	XP_005270194.1:p.Ile282Val
XM_005270138.2:c.763A>G	XP_005270195.1:p.Ile255Val
XM_005270139.2:c.661-3064A>G	XP_005270196.1:n.661-3064A>G
XM_006717960.2:c.844A>G	XP_006718023.1:p.Ile282Val
XM_011540127.1:c.661-3643A>G	XP_011538429.1:n.661-3643A>G
XR_246103.2:n.943A>G
XR_945810.1:n.1173A>G
NM_000375.3:c.763A>G MANE Select	NP_000366.1:p.Ile255Val
NM_001324036.1:c.844A>G	NP_001310965.1:p.Ile282Val
NM_001324037.1:c.763A>G	NP_001310966.1:p.Ile255Val
NM_001324038.1:c.682A>G	NP_001310967.1:p.Ile228Val
NR_136675.1:n.848A>G
NR_136676.1:n.1275A>G
NR_136677.1:n.927-3064A>G
NR_136678.1:n.759A>G
XM_011540127.2:c.661-3643A>G	XP_011538429.1:n.661-3643A>G
XM_017016611.2:c.844A>G	XP_016872100.2:p.Ile282Val
XM_017016612.2:c.661-3064A>G	XP_016872101.1:n.661-3064A>G
XM_024448154.1:c.763A>G	XP_024303922.1:p.Ile255Val
XR_002957010.1:n.2102A>G
XR_246103.3:n.958A>G
XR_945810.2:n.1188A>G
NM_001324036.2:c.844A>G	NP_001310965.1:p.Ile282Val
NM_001324037.2:c.763A>G	NP_001310966.1:p.Ile255Val
NM_001324038.2:c.682A>G	NP_001310967.1:p.Ile228Val
NR_136675.2:n.838A>G
NR_136676.2:n.1265A>G
NR_136678.2:n.749A>G
NR_136677.2:n.917-3064A>G