Canonical Allele Identifier: CA2611367090
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125823124A>C , CM000672.2:g.125823124A>C GRCh38
NC_000010.10:g.127511693A>C , CM000672.1:g.127511693A>C GRCh37
NC_000010.9:g.127501683A>C NCBI36
NG_011557.1:g.5145T>G
NG_029095.1:g.4590A>C
NG_011557.2:g.5145T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713579.1:c.-122T>G ENSP00000518871.1:n.-122T>G
ENST00000368797.10:c.-122T>G MANE Select ENSP00000357787.4:n.-122T>G
ENST00000648119.1:c.-122T>G ENSP00000497494.1:n.-122T>G
ENST00000648427.1:c.-122T>G ENSP00000497909.1:n.-122T>G
ENST00000649536.1:c.-122T>G ENSP00000497817.1:n.-122T>G
ENST00000368778.7:c.-122T>G ENSP00000357767.3:n.-122T>G
ENST00000368797.8:c.-122T>G ENSP00000357787.4:n.-122T>G
ENST00000420761.5:c.-122T>G ENSP00000414833.1:n.-122T>G
NM_000375.2:c.-122T>G NP_000366.1:n.-122T>G
XM_006717960.2:c.-27+83T>G XP_006718023.1:n.-27+83T>G
NM_000375.3:c.-122T>G MANE Select NP_000366.1:n.-122T>G
NM_001324036.1:c.-122T>G NP_001310965.1:n.-122T>G
NM_001324037.1:c.-122T>G NP_001310966.1:n.-122T>G
NM_001324038.1:c.-122T>G NP_001310967.1:n.-122T>G
NM_001324039.1:c.-122T>G NP_001310968.1:n.-122T>G
NR_136675.1:n.145T>G
NR_136676.1:n.145T>G
NR_136677.1:n.145T>G
NR_136678.1:n.145T>G
XM_005270140.5:c.-122T>G XP_005270197.1:n.-122T>G
XM_011540127.2:c.-122T>G XP_011538429.1:n.-122T>G
XM_017016611.2:c.-27+83T>G XP_016872100.2:n.-27+83T>G
XM_017016612.2:c.-122T>G XP_016872101.1:n.-122T>G
XM_024448154.1:c.-27+83T>G XP_024303922.1:n.-27+83T>G
XM_024448155.1:c.-122T>G XP_024303923.1:n.-122T>G
XR_001747196.2:n.2T>G
XR_001747197.2:n.2T>G
XR_002957009.1:n.2T>G
XR_002957010.1:n.38+83T>G
XR_246103.3:n.2T>G
XR_945810.2:n.2T>G
NM_001324036.2:c.-122T>G NP_001310965.1:n.-122T>G
NM_001324037.2:c.-122T>G NP_001310966.1:n.-122T>G
NM_001324038.2:c.-122T>G NP_001310967.1:n.-122T>G
NR_136675.2:n.135T>G
NR_136676.2:n.135T>G
NR_136678.2:n.135T>G
NM_001324039.2:c.-122T>G NP_001310968.1:n.-122T>G
NR_136677.2:n.135T>G