Canonical Allele Identifier: CA2574702999

Gene: UROS

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788669C>G , CM000672.2:g.125788669C>G	GRCh38
NC_000010.10:g.127477238C>G , CM000672.1:g.127477238C>G	GRCh37
NC_000010.9:g.127467228C>G	NCBI36
NG_011557.1:g.39600G>C
NG_011557.2:g.39600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*199G>C	ENSP00000518871.1:n.*199G>C
ENST00000368797.10:c.*199G>C MANE Select	ENSP00000357787.4:n.*199G>C
ENST00000465577.6:c.1017G>C
ENST00000648427.1:c.*995G>C	ENSP00000497909.1:n.*995G>C
ENST00000649536.1:c.*199G>C	ENSP00000497817.1:n.*199G>C
ENST00000650472.1:n.3383G>C
ENST00000650524.1:c.910G>C	ENSP00000498108.1:n.910G>C
ENST00000650587.1:c.*199G>C	ENSP00000497366.1:n.*199G>C
ENST00000368786.5:c.*199G>C	ENSP00000357775.1:n.*199G>C
ENST00000368797.8:c.*199G>C	ENSP00000357787.4:n.*199G>C
ENST00000465577.5:n.639G>C
ENST00000470483.1:n.685G>C
ENST00000484541.5:n.770G>C
ENST00000616800.4:c.161-3409G>C
ENST00000622016.4:c.241-2830G>C	ENSP00000483041.1:n.241-2830G>C
NM_000375.2:c.*199G>C	NP_000366.1:n.*199G>C
XM_005270137.2:c.*199G>C	XP_005270194.1:n.*199G>C
XM_005270138.2:c.*199G>C	XP_005270195.1:n.*199G>C
XM_005270139.2:c.661-2830G>C	XP_005270196.1:n.661-2830G>C
XM_006717960.2:c.*199G>C	XP_006718023.1:n.*199G>C
XM_011540127.1:c.661-3409G>C	XP_011538429.1:n.661-3409G>C
XR_246103.2:n.1177G>C
XR_945810.1:n.1407G>C
NM_000375.3:c.*199G>C MANE Select	NP_000366.1:n.*199G>C
NM_001324036.1:c.*199G>C	NP_001310965.1:n.*199G>C
NM_001324037.1:c.*199G>C	NP_001310966.1:n.*199G>C
NM_001324038.1:c.*199G>C	NP_001310967.1:n.*199G>C
NR_136675.1:n.1082G>C
NR_136676.1:n.1509G>C
NR_136677.1:n.927-2830G>C
NR_136678.1:n.993G>C
XM_011540127.2:c.661-3409G>C	XP_011538429.1:n.661-3409G>C
XM_017016611.2:c.*199G>C	XP_016872100.2:n.*199G>C
XM_017016612.2:c.661-2830G>C	XP_016872101.1:n.661-2830G>C
XM_024448154.1:c.*199G>C	XP_024303922.1:n.*199G>C
XR_002957010.1:n.2336G>C
XR_246103.3:n.1192G>C
XR_945810.2:n.1422G>C
NM_001324036.2:c.*199G>C	NP_001310965.1:n.*199G>C
NM_001324037.2:c.*199G>C	NP_001310966.1:n.*199G>C
NM_001324038.2:c.*199G>C	NP_001310967.1:n.*199G>C
NR_136675.2:n.1072G>C
NR_136676.2:n.1499G>C
NR_136678.2:n.983G>C
NR_136677.2:n.917-2830G>C