Canonical Allele Identifier: CA471795384
Gene: UROS HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.127477548A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788979A>T , CM000672.2:g.125788979A>T GRCh38
NC_000010.10:g.127477548A>T , CM000672.1:g.127477548A>T GRCh37
NC_000010.9:g.127467538A>T NCBI36
NG_011557.1:g.39290T>A
NG_011557.2:g.39290T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.687T>A ENSP00000518871.1:p.Ala229=
ENST00000368797.10:c.687T>A MANE Select ENSP00000357787.4:p.Ala229=
ENST00000465577.6:c.707T>A
ENST00000648427.1:c.*685T>A ENSP00000497909.1:n.*685T>A
ENST00000649536.1:c.687T>A ENSP00000497817.1:p.Ala229=
ENST00000650185.1:c.837T>A
ENST00000650472.1:n.3073T>A
ENST00000650524.1:c.600T>A ENSP00000498108.1:n.600T>A
ENST00000650587.1:c.768T>A ENSP00000497366.1:p.Ala256=
ENST00000368786.5:c.687T>A ENSP00000357775.1:p.Ala229=
ENST00000368797.8:c.687T>A ENSP00000357787.4:p.Ala229=
ENST00000464267.1:n.784T>A
ENST00000465577.5:n.329T>A
ENST00000470483.1:n.375T>A
ENST00000484541.5:n.460T>A
ENST00000616800.4:c.161-3719T>A
ENST00000622016.4:c.241-3140T>A ENSP00000483041.1:n.241-3140T>A
NM_000375.2:c.687T>A NP_000366.1:p.Ala229=
XM_005270137.2:c.768T>A XP_005270194.1:p.Ala256=
XM_005270138.2:c.687T>A XP_005270195.1:p.Ala229=
XM_005270139.2:c.661-3140T>A XP_005270196.1:n.661-3140T>A
XM_006717960.2:c.768T>A XP_006718023.1:p.Ala256=
XM_011540127.1:c.661-3719T>A XP_011538429.1:n.661-3719T>A
XR_246103.2:n.867T>A
XR_945810.1:n.1097T>A
NM_000375.3:c.687T>A MANE Select NP_000366.1:p.Ala229=
NM_001324036.1:c.768T>A NP_001310965.1:p.Ala256=
NM_001324037.1:c.687T>A NP_001310966.1:p.Ala229=
NM_001324038.1:c.606T>A NP_001310967.1:p.Ala202=
NR_136675.1:n.772T>A
NR_136676.1:n.1199T>A
NR_136677.1:n.927-3140T>A
NR_136678.1:n.683T>A
XM_011540127.2:c.661-3719T>A XP_011538429.1:n.661-3719T>A
XM_017016611.2:c.768T>A XP_016872100.2:p.Ala256=
XM_017016612.2:c.661-3140T>A XP_016872101.1:n.661-3140T>A
XM_024448154.1:c.687T>A XP_024303922.1:p.Ala229=
XR_002957010.1:n.2026T>A
XR_246103.3:n.882T>A
XR_945810.2:n.1112T>A
NM_001324036.2:c.768T>A NP_001310965.1:p.Ala256=
NM_001324037.2:c.687T>A NP_001310966.1:p.Ala229=
NM_001324038.2:c.606T>A NP_001310967.1:p.Ala202=
NR_136675.2:n.762T>A
NR_136676.2:n.1189T>A
NR_136678.2:n.673T>A
NR_136677.2:n.917-3140T>A