Canonical Allele Identifier: CA378685654

Gene: UROS

Linked Data

• dbSNP Id: rs1442507186
• gnomAD v2: 10-127477490-G-C
• gnomAD v3: 10-125788921-G-C
• gnomAD v4: 10-125788921-G-C
• MyVariant Identifiers: chr10:g.127477490G>C (hg19) ; chr10:g.125788921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788921G>C , CM000672.2:g.125788921G>C	GRCh38
NC_000010.10:g.127477490G>C , CM000672.1:g.127477490G>C	GRCh37
NC_000010.9:g.127467480G>C	NCBI36
NG_011557.1:g.39348C>G
NG_011557.2:g.39348C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.745C>G	ENSP00000518871.1:p.Gln249Glu
ENST00000368797.10:c.745C>G MANE Select	ENSP00000357787.4:p.Gln249Glu
ENST00000465577.6:c.765C>G
ENST00000648427.1:c.*743C>G	ENSP00000497909.1:n.*743C>G
ENST00000649536.1:c.745C>G	ENSP00000497817.1:p.Gln249Glu
ENST00000650185.1:c.895C>G
ENST00000650472.1:n.3131C>G
ENST00000650524.1:c.658C>G	ENSP00000498108.1:n.658C>G
ENST00000650587.1:c.826C>G	ENSP00000497366.1:p.Gln276Glu
ENST00000368786.5:c.745C>G	ENSP00000357775.1:p.Gln249Glu
ENST00000368797.8:c.745C>G	ENSP00000357787.4:p.Gln249Glu
ENST00000464267.1:n.842C>G
ENST00000465577.5:n.387C>G
ENST00000470483.1:n.433C>G
ENST00000484541.5:n.518C>G
ENST00000616800.4:c.161-3661C>G
ENST00000622016.4:c.241-3082C>G	ENSP00000483041.1:n.241-3082C>G
NM_000375.2:c.745C>G	NP_000366.1:p.Gln249Glu
XM_005270137.2:c.826C>G	XP_005270194.1:p.Gln276Glu
XM_005270138.2:c.745C>G	XP_005270195.1:p.Gln249Glu
XM_005270139.2:c.661-3082C>G	XP_005270196.1:n.661-3082C>G
XM_006717960.2:c.826C>G	XP_006718023.1:p.Gln276Glu
XM_011540127.1:c.661-3661C>G	XP_011538429.1:n.661-3661C>G
XR_246103.2:n.925C>G
XR_945810.1:n.1155C>G
NM_000375.3:c.745C>G MANE Select	NP_000366.1:p.Gln249Glu
NM_001324036.1:c.826C>G	NP_001310965.1:p.Gln276Glu
NM_001324037.1:c.745C>G	NP_001310966.1:p.Gln249Glu
NM_001324038.1:c.664C>G	NP_001310967.1:p.Gln222Glu
NR_136675.1:n.830C>G
NR_136676.1:n.1257C>G
NR_136677.1:n.927-3082C>G
NR_136678.1:n.741C>G
XM_011540127.2:c.661-3661C>G	XP_011538429.1:n.661-3661C>G
XM_017016611.2:c.826C>G	XP_016872100.2:p.Gln276Glu
XM_017016612.2:c.661-3082C>G	XP_016872101.1:n.661-3082C>G
XM_024448154.1:c.745C>G	XP_024303922.1:p.Gln249Glu
XR_002957010.1:n.2084C>G
XR_246103.3:n.940C>G
XR_945810.2:n.1170C>G
NM_001324036.2:c.826C>G	NP_001310965.1:p.Gln276Glu
NM_001324037.2:c.745C>G	NP_001310966.1:p.Gln249Glu
NM_001324038.2:c.664C>G	NP_001310967.1:p.Gln222Glu
NR_136675.2:n.820C>G
NR_136676.2:n.1247C>G
NR_136678.2:n.731C>G
NR_136677.2:n.917-3082C>G