Canonical Allele Identifier: CA2544462439
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125789069T>A , CM000672.2:g.125789069T>A GRCh38
NC_000010.10:g.127477638T>A , CM000672.1:g.127477638T>A GRCh37
NC_000010.9:g.127467628T>A NCBI36
NG_011557.1:g.39200A>T
NG_011557.2:g.39200A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.661-64A>T ENSP00000518871.1:n.661-64A>T
ENST00000368797.10:c.661-64A>T MANE Select ENSP00000357787.4:n.661-64A>T
ENST00000465577.6:c.681-64A>T
ENST00000648427.1:c.*659-64A>T ENSP00000497909.1:n.*659-64A>T
ENST00000649536.1:c.661-64A>T ENSP00000497817.1:n.661-64A>T
ENST00000650185.1:c.811-64A>T
ENST00000650472.1:n.3047-64A>T
ENST00000650524.1:c.574-64A>T ENSP00000498108.1:n.574-64A>T
ENST00000650587.1:c.742-64A>T ENSP00000497366.1:n.742-64A>T
ENST00000368786.5:c.661-64A>T ENSP00000357775.1:n.661-64A>T
ENST00000368797.8:c.661-64A>T ENSP00000357787.4:n.661-64A>T
ENST00000464267.1:n.758-64A>T
ENST00000465577.5:n.303-64A>T
ENST00000470483.1:n.349-64A>T
ENST00000484541.5:n.434-64A>T
ENST00000616800.4:c.161-3809A>T
ENST00000622016.4:c.241-3230A>T ENSP00000483041.1:n.241-3230A>T
NM_000375.2:c.661-64A>T NP_000366.1:n.661-64A>T
XM_005270137.2:c.742-64A>T XP_005270194.1:n.742-64A>T
XM_005270138.2:c.661-64A>T XP_005270195.1:n.661-64A>T
XM_005270139.2:c.661-3230A>T XP_005270196.1:n.661-3230A>T
XM_006717960.2:c.742-64A>T XP_006718023.1:n.742-64A>T
XM_011540127.1:c.661-3809A>T XP_011538429.1:n.661-3809A>T
XR_246103.2:n.841-64A>T
XR_945810.1:n.1071-64A>T
NM_000375.3:c.661-64A>T MANE Select NP_000366.1:n.661-64A>T
NM_001324036.1:c.742-64A>T NP_001310965.1:n.742-64A>T
NM_001324037.1:c.661-64A>T NP_001310966.1:n.661-64A>T
NM_001324038.1:c.580-64A>T NP_001310967.1:n.580-64A>T
NR_136675.1:n.746-64A>T
NR_136676.1:n.1173-64A>T
NR_136677.1:n.927-3230A>T
NR_136678.1:n.657-64A>T
XM_011540127.2:c.661-3809A>T XP_011538429.1:n.661-3809A>T
XM_017016611.2:c.742-64A>T XP_016872100.2:n.742-64A>T
XM_017016612.2:c.661-3230A>T XP_016872101.1:n.661-3230A>T
XM_024448154.1:c.661-64A>T XP_024303922.1:n.661-64A>T
XR_002957010.1:n.2000-64A>T
XR_246103.3:n.856-64A>T
XR_945810.2:n.1086-64A>T
NM_001324036.2:c.742-64A>T NP_001310965.1:n.742-64A>T
NM_001324037.2:c.661-64A>T NP_001310966.1:n.661-64A>T
NM_001324038.2:c.580-64A>T NP_001310967.1:n.580-64A>T
NR_136675.2:n.736-64A>T
NR_136676.2:n.1163-64A>T
NR_136678.2:n.647-64A>T
NR_136677.2:n.917-3230A>T