Canonical Allele Identifier: CA378685867

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477544C>G (hg19) ; chr10:g.125788975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788975C>G , CM000672.2:g.125788975C>G	GRCh38
NC_000010.10:g.127477544C>G , CM000672.1:g.127477544C>G	GRCh37
NC_000010.9:g.127467534C>G	NCBI36
NG_011557.1:g.39294G>C
NG_011557.2:g.39294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.691G>C	ENSP00000518871.1:p.Ala231Pro
ENST00000368797.10:c.691G>C MANE Select	ENSP00000357787.4:p.Ala231Pro
ENST00000465577.6:c.711G>C
ENST00000648427.1:c.*689G>C	ENSP00000497909.1:n.*689G>C
ENST00000649536.1:c.691G>C	ENSP00000497817.1:p.Ala231Pro
ENST00000650185.1:c.841G>C
ENST00000650472.1:n.3077G>C
ENST00000650524.1:c.604G>C	ENSP00000498108.1:n.604G>C
ENST00000650587.1:c.772G>C	ENSP00000497366.1:p.Ala258Pro
ENST00000368786.5:c.691G>C	ENSP00000357775.1:p.Ala231Pro
ENST00000368797.8:c.691G>C	ENSP00000357787.4:p.Ala231Pro
ENST00000464267.1:n.788G>C
ENST00000465577.5:n.333G>C
ENST00000470483.1:n.379G>C
ENST00000484541.5:n.464G>C
ENST00000616800.4:c.161-3715G>C
ENST00000622016.4:c.241-3136G>C	ENSP00000483041.1:n.241-3136G>C
NM_000375.2:c.691G>C	NP_000366.1:p.Ala231Pro
XM_005270137.2:c.772G>C	XP_005270194.1:p.Ala258Pro
XM_005270138.2:c.691G>C	XP_005270195.1:p.Ala231Pro
XM_005270139.2:c.661-3136G>C	XP_005270196.1:n.661-3136G>C
XM_006717960.2:c.772G>C	XP_006718023.1:p.Ala258Pro
XM_011540127.1:c.661-3715G>C	XP_011538429.1:n.661-3715G>C
XR_246103.2:n.871G>C
XR_945810.1:n.1101G>C
NM_000375.3:c.691G>C MANE Select	NP_000366.1:p.Ala231Pro
NM_001324036.1:c.772G>C	NP_001310965.1:p.Ala258Pro
NM_001324037.1:c.691G>C	NP_001310966.1:p.Ala231Pro
NM_001324038.1:c.610G>C	NP_001310967.1:p.Ala204Pro
NR_136675.1:n.776G>C
NR_136676.1:n.1203G>C
NR_136677.1:n.927-3136G>C
NR_136678.1:n.687G>C
XM_011540127.2:c.661-3715G>C	XP_011538429.1:n.661-3715G>C
XM_017016611.2:c.772G>C	XP_016872100.2:p.Ala258Pro
XM_017016612.2:c.661-3136G>C	XP_016872101.1:n.661-3136G>C
XM_024448154.1:c.691G>C	XP_024303922.1:p.Ala231Pro
XR_002957010.1:n.2030G>C
XR_246103.3:n.886G>C
XR_945810.2:n.1116G>C
NM_001324036.2:c.772G>C	NP_001310965.1:p.Ala258Pro
NM_001324037.2:c.691G>C	NP_001310966.1:p.Ala231Pro
NM_001324038.2:c.610G>C	NP_001310967.1:p.Ala204Pro
NR_136675.2:n.766G>C
NR_136676.2:n.1193G>C
NR_136678.2:n.677G>C
NR_136677.2:n.917-3136G>C