Canonical Allele Identifier: CA933571084

Gene: UROS

Linked Data

• dbSNP Id: rs1850703565
• gnomAD v3: 10-125788648-G-C
• gnomAD v4: 10-125788648-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788648G>C , CM000672.2:g.125788648G>C	GRCh38
NC_000010.10:g.127477217G>C , CM000672.1:g.127477217G>C	GRCh37
NC_000010.9:g.127467207G>C	NCBI36
NG_011557.1:g.39621C>G
NG_011557.2:g.39621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*220C>G	ENSP00000518871.1:n.*220C>G
ENST00000368797.10:c.*220C>G MANE Select	ENSP00000357787.4:n.*220C>G
ENST00000465577.6:c.1038C>G
ENST00000648427.1:c.*1016C>G	ENSP00000497909.1:n.*1016C>G
ENST00000649536.1:c.*220C>G	ENSP00000497817.1:n.*220C>G
ENST00000650472.1:n.3404C>G
ENST00000650524.1:c.931C>G	ENSP00000498108.1:n.931C>G
ENST00000650587.1:c.*220C>G	ENSP00000497366.1:n.*220C>G
ENST00000368786.5:c.*220C>G	ENSP00000357775.1:n.*220C>G
ENST00000368797.8:c.*220C>G	ENSP00000357787.4:n.*220C>G
ENST00000465577.5:n.660C>G
ENST00000470483.1:n.706C>G
ENST00000484541.5:n.791C>G
ENST00000616800.4:c.161-3388C>G
ENST00000622016.4:c.241-2809C>G	ENSP00000483041.1:n.241-2809C>G
NM_000375.2:c.*220C>G	NP_000366.1:n.*220C>G
XM_005270137.2:c.*220C>G	XP_005270194.1:n.*220C>G
XM_005270138.2:c.*220C>G	XP_005270195.1:n.*220C>G
XM_005270139.2:c.661-2809C>G	XP_005270196.1:n.661-2809C>G
XM_006717960.2:c.*220C>G	XP_006718023.1:n.*220C>G
XM_011540127.1:c.661-3388C>G	XP_011538429.1:n.661-3388C>G
XR_246103.2:n.1198C>G
XR_945810.1:n.1428C>G
NM_000375.3:c.*220C>G MANE Select	NP_000366.1:n.*220C>G
NM_001324036.1:c.*220C>G	NP_001310965.1:n.*220C>G
NM_001324037.1:c.*220C>G	NP_001310966.1:n.*220C>G
NM_001324038.1:c.*220C>G	NP_001310967.1:n.*220C>G
NR_136675.1:n.1103C>G
NR_136676.1:n.1530C>G
NR_136677.1:n.927-2809C>G
NR_136678.1:n.1014C>G
XM_011540127.2:c.661-3388C>G	XP_011538429.1:n.661-3388C>G
XM_017016611.2:c.*220C>G	XP_016872100.2:n.*220C>G
XM_017016612.2:c.661-2809C>G	XP_016872101.1:n.661-2809C>G
XM_024448154.1:c.*220C>G	XP_024303922.1:n.*220C>G
XR_002957010.1:n.2357C>G
XR_246103.3:n.1213C>G
XR_945810.2:n.1443C>G
NM_001324036.2:c.*220C>G	NP_001310965.1:n.*220C>G
NM_001324037.2:c.*220C>G	NP_001310966.1:n.*220C>G
NM_001324038.2:c.*220C>G	NP_001310967.1:n.*220C>G
NR_136675.2:n.1093C>G
NR_136676.2:n.1520C>G
NR_136678.2:n.1004C>G
NR_136677.2:n.917-2809C>G