Canonical Allele Identifier: CA1943001258
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788980G= , CM000672.2:g.125788980G= GRCh38
NC_000010.10:g.127477549G= , CM000672.1:g.127477549G= GRCh37
NC_000010.9:g.127467539G= NCBI36
NG_011557.1:g.39289C=
NG_011557.2:g.39289C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.686C= ENSP00000518871.1:p.Ala229=
ENST00000368797.10:c.686C= MANE Select ENSP00000357787.4:p.Ala229=
ENST00000465577.6:c.706C=
ENST00000648427.1:c.*684C= ENSP00000497909.1:n.*684C=
ENST00000649536.1:c.686C= ENSP00000497817.1:p.Ala229=
ENST00000650185.1:c.836C=
ENST00000650472.1:n.3072C=
ENST00000650524.1:c.599C= ENSP00000498108.1:n.599C=
ENST00000650587.1:c.767C= ENSP00000497366.1:p.Ala256=
ENST00000368786.5:c.686C= ENSP00000357775.1:p.Ala229=
ENST00000368797.8:c.686C= ENSP00000357787.4:p.Ala229=
ENST00000464267.1:n.783C=
ENST00000465577.5:n.328C=
ENST00000470483.1:n.374C=
ENST00000484541.5:n.459C=
ENST00000616800.4:c.161-3720C=
ENST00000622016.4:c.241-3141C= ENSP00000483041.1:n.241-3141C=
NM_000375.2:c.686C= NP_000366.1:p.Ala229=
XM_005270137.2:c.767C= XP_005270194.1:p.Ala256=
XM_005270138.2:c.686C= XP_005270195.1:p.Ala229=
XM_005270139.2:c.661-3141C= XP_005270196.1:n.661-3141C=
XM_006717960.2:c.767C= XP_006718023.1:p.Ala256=
XM_011540127.1:c.661-3720C= XP_011538429.1:n.661-3720C=
XR_246103.2:n.866C=
XR_945810.1:n.1096C=
NM_000375.3:c.686C= MANE Select NP_000366.1:p.Ala229=
NM_001324036.1:c.767C= NP_001310965.1:p.Ala256=
NM_001324037.1:c.686C= NP_001310966.1:p.Ala229=
NM_001324038.1:c.605C= NP_001310967.1:p.Ala202=
NR_136675.1:n.771C=
NR_136676.1:n.1198C=
NR_136677.1:n.927-3141C=
NR_136678.1:n.682C=
XM_011540127.2:c.661-3720C= XP_011538429.1:n.661-3720C=
XM_017016611.2:c.767C= XP_016872100.2:p.Ala256=
XM_017016612.2:c.661-3141C= XP_016872101.1:n.661-3141C=
XM_024448154.1:c.686C= XP_024303922.1:p.Ala229=
XR_002957010.1:n.2025C=
XR_246103.3:n.881C=
XR_945810.2:n.1111C=
NM_001324036.2:c.767C= NP_001310965.1:p.Ala256=
NM_001324037.2:c.686C= NP_001310966.1:p.Ala229=
NM_001324038.2:c.605C= NP_001310967.1:p.Ala202=
NR_136675.2:n.761C=
NR_136676.2:n.1188C=
NR_136678.2:n.672C=
NR_136677.2:n.917-3141C=