Canonical Allele Identifier: CA1943001280
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1850733129

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125789016A>G , CM000672.2:g.125789016A>G GRCh38
NC_000010.10:g.127477585A>G , CM000672.1:g.127477585A>G GRCh37
NC_000010.9:g.127467575A>G NCBI36
NG_011557.1:g.39253T>C
NG_011557.2:g.39253T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.661-11T>C ENSP00000518871.1:n.661-11T>C
ENST00000368797.10:c.661-11T>C MANE Select ENSP00000357787.4:n.661-11T>C
ENST00000465577.6:c.681-11T>C
ENST00000648427.1:c.*659-11T>C ENSP00000497909.1:n.*659-11T>C
ENST00000649536.1:c.661-11T>C ENSP00000497817.1:n.661-11T>C
ENST00000650185.1:c.811-11T>C
ENST00000650472.1:n.3047-11T>C
ENST00000650524.1:c.574-11T>C ENSP00000498108.1:n.574-11T>C
ENST00000650587.1:c.742-11T>C ENSP00000497366.1:n.742-11T>C
ENST00000368786.5:c.661-11T>C ENSP00000357775.1:n.661-11T>C
ENST00000368797.8:c.661-11T>C ENSP00000357787.4:n.661-11T>C
ENST00000464267.1:n.758-11T>C
ENST00000465577.5:n.303-11T>C
ENST00000470483.1:n.349-11T>C
ENST00000484541.5:n.434-11T>C
ENST00000616800.4:c.161-3756T>C
ENST00000622016.4:c.241-3177T>C ENSP00000483041.1:n.241-3177T>C
NM_000375.2:c.661-11T>C NP_000366.1:n.661-11T>C
XM_005270137.2:c.742-11T>C XP_005270194.1:n.742-11T>C
XM_005270138.2:c.661-11T>C XP_005270195.1:n.661-11T>C
XM_005270139.2:c.661-3177T>C XP_005270196.1:n.661-3177T>C
XM_006717960.2:c.742-11T>C XP_006718023.1:n.742-11T>C
XM_011540127.1:c.661-3756T>C XP_011538429.1:n.661-3756T>C
XR_246103.2:n.841-11T>C
XR_945810.1:n.1071-11T>C
NM_000375.3:c.661-11T>C MANE Select NP_000366.1:n.661-11T>C
NM_001324036.1:c.742-11T>C NP_001310965.1:n.742-11T>C
NM_001324037.1:c.661-11T>C NP_001310966.1:n.661-11T>C
NM_001324038.1:c.580-11T>C NP_001310967.1:n.580-11T>C
NR_136675.1:n.746-11T>C
NR_136676.1:n.1173-11T>C
NR_136677.1:n.927-3177T>C
NR_136678.1:n.657-11T>C
XM_011540127.2:c.661-3756T>C XP_011538429.1:n.661-3756T>C
XM_017016611.2:c.742-11T>C XP_016872100.2:n.742-11T>C
XM_017016612.2:c.661-3177T>C XP_016872101.1:n.661-3177T>C
XM_024448154.1:c.661-11T>C XP_024303922.1:n.661-11T>C
XR_002957010.1:n.2000-11T>C
XR_246103.3:n.856-11T>C
XR_945810.2:n.1086-11T>C
NM_001324036.2:c.742-11T>C NP_001310965.1:n.742-11T>C
NM_001324037.2:c.661-11T>C NP_001310966.1:n.661-11T>C
NM_001324038.2:c.580-11T>C NP_001310967.1:n.580-11T>C
NR_136675.2:n.736-11T>C
NR_136676.2:n.1163-11T>C
NR_136678.2:n.647-11T>C
NR_136677.2:n.917-3177T>C