Canonical Allele Identifier: CA378685579

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477471A>C (hg19) ; chr10:g.125788902A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788902A>C , CM000672.2:g.125788902A>C	GRCh38
NC_000010.10:g.127477471A>C , CM000672.1:g.127477471A>C	GRCh37
NC_000010.9:g.127467461A>C	NCBI36
NG_011557.1:g.39367T>G
NG_011557.2:g.39367T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.764T>G	ENSP00000518871.1:p.Ile255Ser
ENST00000368797.10:c.764T>G MANE Select	ENSP00000357787.4:p.Ile255Ser
ENST00000465577.6:c.784T>G
ENST00000648427.1:c.*762T>G	ENSP00000497909.1:n.*762T>G
ENST00000649536.1:c.764T>G	ENSP00000497817.1:p.Ile255Ser
ENST00000650472.1:n.3150T>G
ENST00000650524.1:c.677T>G	ENSP00000498108.1:n.677T>G
ENST00000650587.1:c.845T>G	ENSP00000497366.1:p.Ile282Ser
ENST00000368786.5:c.764T>G	ENSP00000357775.1:p.Ile255Ser
ENST00000368797.8:c.764T>G	ENSP00000357787.4:p.Ile255Ser
ENST00000464267.1:n.861T>G
ENST00000465577.5:n.406T>G
ENST00000470483.1:n.452T>G
ENST00000484541.5:n.537T>G
ENST00000616800.4:c.161-3642T>G
ENST00000622016.4:c.241-3063T>G	ENSP00000483041.1:n.241-3063T>G
NM_000375.2:c.764T>G	NP_000366.1:p.Ile255Ser
XM_005270137.2:c.845T>G	XP_005270194.1:p.Ile282Ser
XM_005270138.2:c.764T>G	XP_005270195.1:p.Ile255Ser
XM_005270139.2:c.661-3063T>G	XP_005270196.1:n.661-3063T>G
XM_006717960.2:c.845T>G	XP_006718023.1:p.Ile282Ser
XM_011540127.1:c.661-3642T>G	XP_011538429.1:n.661-3642T>G
XR_246103.2:n.944T>G
XR_945810.1:n.1174T>G
NM_000375.3:c.764T>G MANE Select	NP_000366.1:p.Ile255Ser
NM_001324036.1:c.845T>G	NP_001310965.1:p.Ile282Ser
NM_001324037.1:c.764T>G	NP_001310966.1:p.Ile255Ser
NM_001324038.1:c.683T>G	NP_001310967.1:p.Ile228Ser
NR_136675.1:n.849T>G
NR_136676.1:n.1276T>G
NR_136677.1:n.927-3063T>G
NR_136678.1:n.760T>G
XM_011540127.2:c.661-3642T>G	XP_011538429.1:n.661-3642T>G
XM_017016611.2:c.845T>G	XP_016872100.2:p.Ile282Ser
XM_017016612.2:c.661-3063T>G	XP_016872101.1:n.661-3063T>G
XM_024448154.1:c.764T>G	XP_024303922.1:p.Ile255Ser
XR_002957010.1:n.2103T>G
XR_246103.3:n.959T>G
XR_945810.2:n.1189T>G
NM_001324036.2:c.845T>G	NP_001310965.1:p.Ile282Ser
NM_001324037.2:c.764T>G	NP_001310966.1:p.Ile255Ser
NM_001324038.2:c.683T>G	NP_001310967.1:p.Ile228Ser
NR_136675.2:n.839T>G
NR_136676.2:n.1266T>G
NR_136678.2:n.750T>G
NR_136677.2:n.917-3063T>G