Canonical Allele Identifier: CA1943001204
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788880A= , CM000672.2:g.125788880A= GRCh38
NC_000010.10:g.127477449A= , CM000672.1:g.127477449A= GRCh37
NC_000010.9:g.127467439A= NCBI36
NG_011557.1:g.39389T=
NG_011557.2:g.39389T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.786T= ENSP00000518871.1:p.His262=
ENST00000368797.10:c.786T= MANE Select ENSP00000357787.4:p.His262=
ENST00000465577.6:c.806T=
ENST00000648427.1:c.*784T= ENSP00000497909.1:n.*784T=
ENST00000649536.1:c.786T= ENSP00000497817.1:p.His262=
ENST00000650472.1:n.3172T=
ENST00000650524.1:c.699T= ENSP00000498108.1:n.699T=
ENST00000650587.1:c.867T= ENSP00000497366.1:p.His289=
ENST00000368786.5:c.786T= ENSP00000357775.1:p.His262=
ENST00000368797.8:c.786T= ENSP00000357787.4:p.His262=
ENST00000464267.1:n.883T=
ENST00000465577.5:n.428T=
ENST00000470483.1:n.474T=
ENST00000484541.5:n.559T=
ENST00000616800.4:c.161-3620T=
ENST00000622016.4:c.241-3041T= ENSP00000483041.1:n.241-3041T=
NM_000375.2:c.786T= NP_000366.1:p.His262=
XM_005270137.2:c.867T= XP_005270194.1:p.His289=
XM_005270138.2:c.786T= XP_005270195.1:p.His262=
XM_005270139.2:c.661-3041T= XP_005270196.1:n.661-3041T=
XM_006717960.2:c.867T= XP_006718023.1:p.His289=
XM_011540127.1:c.661-3620T= XP_011538429.1:n.661-3620T=
XR_246103.2:n.966T=
XR_945810.1:n.1196T=
NM_000375.3:c.786T= MANE Select NP_000366.1:p.His262=
NM_001324036.1:c.867T= NP_001310965.1:p.His289=
NM_001324037.1:c.786T= NP_001310966.1:p.His262=
NM_001324038.1:c.705T= NP_001310967.1:p.His235=
NR_136675.1:n.871T=
NR_136676.1:n.1298T=
NR_136677.1:n.927-3041T=
NR_136678.1:n.782T=
XM_011540127.2:c.661-3620T= XP_011538429.1:n.661-3620T=
XM_017016611.2:c.867T= XP_016872100.2:p.His289=
XM_017016612.2:c.661-3041T= XP_016872101.1:n.661-3041T=
XM_024448154.1:c.786T= XP_024303922.1:p.His262=
XR_002957010.1:n.2125T=
XR_246103.3:n.981T=
XR_945810.2:n.1211T=
NM_001324036.2:c.867T= NP_001310965.1:p.His289=
NM_001324037.2:c.786T= NP_001310966.1:p.His262=
NM_001324038.2:c.705T= NP_001310967.1:p.His235=
NR_136675.2:n.861T=
NR_136676.2:n.1288T=
NR_136678.2:n.772T=
NR_136677.2:n.917-3041T=