Canonical Allele Identifier: CA5738331

Gene: UROS

Linked Data

• dbSNP Id: rs760016826
• ExAC: 10:127477564 A / G
• gnomAD v2: 10-127477564-A-G
• MyVariant Identifiers: chr10:g.127477564A>G (hg19) ; chr10:g.125788995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788995A>G , CM000672.2:g.125788995A>G	GRCh38
NC_000010.10:g.127477564A>G , CM000672.1:g.127477564A>G	GRCh37
NC_000010.9:g.127467554A>G	NCBI36
NG_011557.1:g.39274T>C
NG_011557.2:g.39274T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.671T>C	ENSP00000518871.1:p.Ile224Thr
ENST00000368797.10:c.671T>C MANE Select	ENSP00000357787.4:p.Ile224Thr
ENST00000465577.6:c.691T>C
ENST00000648427.1:c.*669T>C	ENSP00000497909.1:n.*669T>C
ENST00000649536.1:c.671T>C	ENSP00000497817.1:p.Ile224Thr
ENST00000650185.1:c.821T>C
ENST00000650472.1:n.3057T>C
ENST00000650524.1:c.584T>C	ENSP00000498108.1:n.584T>C
ENST00000650587.1:c.752T>C	ENSP00000497366.1:p.Ile251Thr
ENST00000368786.5:c.671T>C	ENSP00000357775.1:p.Ile224Thr
ENST00000368797.8:c.671T>C	ENSP00000357787.4:p.Ile224Thr
ENST00000464267.1:n.768T>C
ENST00000465577.5:n.313T>C
ENST00000470483.1:n.359T>C
ENST00000484541.5:n.444T>C
ENST00000616800.4:c.161-3735T>C
ENST00000622016.4:c.241-3156T>C	ENSP00000483041.1:n.241-3156T>C
NM_000375.2:c.671T>C	NP_000366.1:p.Ile224Thr
XM_005270137.2:c.752T>C	XP_005270194.1:p.Ile251Thr
XM_005270138.2:c.671T>C	XP_005270195.1:p.Ile224Thr
XM_005270139.2:c.661-3156T>C	XP_005270196.1:n.661-3156T>C
XM_006717960.2:c.752T>C	XP_006718023.1:p.Ile251Thr
XM_011540127.1:c.661-3735T>C	XP_011538429.1:n.661-3735T>C
XR_246103.2:n.851T>C
XR_945810.1:n.1081T>C
NM_000375.3:c.671T>C MANE Select	NP_000366.1:p.Ile224Thr
NM_001324036.1:c.752T>C	NP_001310965.1:p.Ile251Thr
NM_001324037.1:c.671T>C	NP_001310966.1:p.Ile224Thr
NM_001324038.1:c.590T>C	NP_001310967.1:p.Ile197Thr
NR_136675.1:n.756T>C
NR_136676.1:n.1183T>C
NR_136677.1:n.927-3156T>C
NR_136678.1:n.667T>C
XM_011540127.2:c.661-3735T>C	XP_011538429.1:n.661-3735T>C
XM_017016611.2:c.752T>C	XP_016872100.2:p.Ile251Thr
XM_017016612.2:c.661-3156T>C	XP_016872101.1:n.661-3156T>C
XM_024448154.1:c.671T>C	XP_024303922.1:p.Ile224Thr
XR_002957010.1:n.2010T>C
XR_246103.3:n.866T>C
XR_945810.2:n.1096T>C
NM_001324036.2:c.752T>C	NP_001310965.1:p.Ile251Thr
NM_001324037.2:c.671T>C	NP_001310966.1:p.Ile224Thr
NM_001324038.2:c.590T>C	NP_001310967.1:p.Ile197Thr
NR_136675.2:n.746T>C
NR_136676.2:n.1173T>C
NR_136678.2:n.657T>C
NR_136677.2:n.917-3156T>C