Canonical Allele Identifier: CA378685886

Gene: UROS

Linked Data

• gnomAD v4: 10-125788987-T-G
• MyVariant Identifiers: chr10:g.127477556T>G (hg19) ; chr10:g.125788987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788987T>G , CM000672.2:g.125788987T>G	GRCh38
NC_000010.10:g.127477556T>G , CM000672.1:g.127477556T>G	GRCh37
NC_000010.9:g.127467546T>G	NCBI36
NG_011557.1:g.39282A>C
NG_011557.2:g.39282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.679A>C	ENSP00000518871.1:p.Thr227Pro
ENST00000368797.10:c.679A>C MANE Select	ENSP00000357787.4:p.Thr227Pro
ENST00000465577.6:c.699A>C
ENST00000648427.1:c.*677A>C	ENSP00000497909.1:n.*677A>C
ENST00000649536.1:c.679A>C	ENSP00000497817.1:p.Thr227Pro
ENST00000650185.1:c.829A>C
ENST00000650472.1:n.3065A>C
ENST00000650524.1:c.592A>C	ENSP00000498108.1:n.592A>C
ENST00000650587.1:c.760A>C	ENSP00000497366.1:p.Thr254Pro
ENST00000368786.5:c.679A>C	ENSP00000357775.1:p.Thr227Pro
ENST00000368797.8:c.679A>C	ENSP00000357787.4:p.Thr227Pro
ENST00000464267.1:n.776A>C
ENST00000465577.5:n.321A>C
ENST00000470483.1:n.367A>C
ENST00000484541.5:n.452A>C
ENST00000616800.4:c.161-3727A>C
ENST00000622016.4:c.241-3148A>C	ENSP00000483041.1:n.241-3148A>C
NM_000375.2:c.679A>C	NP_000366.1:p.Thr227Pro
XM_005270137.2:c.760A>C	XP_005270194.1:p.Thr254Pro
XM_005270138.2:c.679A>C	XP_005270195.1:p.Thr227Pro
XM_005270139.2:c.661-3148A>C	XP_005270196.1:n.661-3148A>C
XM_006717960.2:c.760A>C	XP_006718023.1:p.Thr254Pro
XM_011540127.1:c.661-3727A>C	XP_011538429.1:n.661-3727A>C
XR_246103.2:n.859A>C
XR_945810.1:n.1089A>C
NM_000375.3:c.679A>C MANE Select	NP_000366.1:p.Thr227Pro
NM_001324036.1:c.760A>C	NP_001310965.1:p.Thr254Pro
NM_001324037.1:c.679A>C	NP_001310966.1:p.Thr227Pro
NM_001324038.1:c.598A>C	NP_001310967.1:p.Thr200Pro
NR_136675.1:n.764A>C
NR_136676.1:n.1191A>C
NR_136677.1:n.927-3148A>C
NR_136678.1:n.675A>C
XM_011540127.2:c.661-3727A>C	XP_011538429.1:n.661-3727A>C
XM_017016611.2:c.760A>C	XP_016872100.2:p.Thr254Pro
XM_017016612.2:c.661-3148A>C	XP_016872101.1:n.661-3148A>C
XM_024448154.1:c.679A>C	XP_024303922.1:p.Thr227Pro
XR_002957010.1:n.2018A>C
XR_246103.3:n.874A>C
XR_945810.2:n.1104A>C
NM_001324036.2:c.760A>C	NP_001310965.1:p.Thr254Pro
NM_001324037.2:c.679A>C	NP_001310966.1:p.Thr227Pro
NM_001324038.2:c.598A>C	NP_001310967.1:p.Thr200Pro
NR_136675.2:n.754A>C
NR_136676.2:n.1181A>C
NR_136678.2:n.665A>C
NR_136677.2:n.917-3148A>C