Canonical Allele Identifier: CA2611362078

Gene: UROS

Linked Data

• gnomAD v4: 10-125788820-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788820C>G , CM000672.2:g.125788820C>G	GRCh38
NC_000010.10:g.127477389C>G , CM000672.1:g.127477389C>G	GRCh37
NC_000010.9:g.127467379C>G	NCBI36
NG_011557.1:g.39449G>C
NG_011557.2:g.39449G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*48G>C	ENSP00000518871.1:n.*48G>C
ENST00000368797.10:c.*48G>C MANE Select	ENSP00000357787.4:n.*48G>C
ENST00000465577.6:c.866G>C
ENST00000648427.1:c.*844G>C	ENSP00000497909.1:n.*844G>C
ENST00000649536.1:c.*48G>C	ENSP00000497817.1:n.*48G>C
ENST00000650472.1:n.3232G>C
ENST00000650524.1:c.759G>C	ENSP00000498108.1:n.759G>C
ENST00000650587.1:c.*48G>C	ENSP00000497366.1:n.*48G>C
ENST00000368786.5:c.*48G>C	ENSP00000357775.1:n.*48G>C
ENST00000368797.8:c.*48G>C	ENSP00000357787.4:n.*48G>C
ENST00000464267.1:n.943G>C
ENST00000465577.5:n.488G>C
ENST00000470483.1:n.534G>C
ENST00000484541.5:n.619G>C
ENST00000616800.4:c.161-3560G>C
ENST00000622016.4:c.241-2981G>C	ENSP00000483041.1:n.241-2981G>C
NM_000375.2:c.*48G>C	NP_000366.1:n.*48G>C
XM_005270137.2:c.*48G>C	XP_005270194.1:n.*48G>C
XM_005270138.2:c.*48G>C	XP_005270195.1:n.*48G>C
XM_005270139.2:c.661-2981G>C	XP_005270196.1:n.661-2981G>C
XM_006717960.2:c.*48G>C	XP_006718023.1:n.*48G>C
XM_011540127.1:c.661-3560G>C	XP_011538429.1:n.661-3560G>C
XR_246103.2:n.1026G>C
XR_945810.1:n.1256G>C
NM_000375.3:c.*48G>C MANE Select	NP_000366.1:n.*48G>C
NM_001324036.1:c.*48G>C	NP_001310965.1:n.*48G>C
NM_001324037.1:c.*48G>C	NP_001310966.1:n.*48G>C
NM_001324038.1:c.*48G>C	NP_001310967.1:n.*48G>C
NR_136675.1:n.931G>C
NR_136676.1:n.1358G>C
NR_136677.1:n.927-2981G>C
NR_136678.1:n.842G>C
XM_011540127.2:c.661-3560G>C	XP_011538429.1:n.661-3560G>C
XM_017016611.2:c.*48G>C	XP_016872100.2:n.*48G>C
XM_017016612.2:c.661-2981G>C	XP_016872101.1:n.661-2981G>C
XM_024448154.1:c.*48G>C	XP_024303922.1:n.*48G>C
XR_002957010.1:n.2185G>C
XR_246103.3:n.1041G>C
XR_945810.2:n.1271G>C
NM_001324036.2:c.*48G>C	NP_001310965.1:n.*48G>C
NM_001324037.2:c.*48G>C	NP_001310966.1:n.*48G>C
NM_001324038.2:c.*48G>C	NP_001310967.1:n.*48G>C
NR_136675.2:n.921G>C
NR_136676.2:n.1348G>C
NR_136678.2:n.832G>C
NR_136677.2:n.917-2981G>C