Canonical Allele Identifier: CA596582764

Gene: UROS

Linked Data

• dbSNP Id: rs1428392993
• gnomAD v2: 10-127477604-C-T
• MyVariant Identifiers: chr10:g.127477604C>T (hg19) ; chr10:g.125789035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125789035C>T , CM000672.2:g.125789035C>T	GRCh38
NC_000010.10:g.127477604C>T , CM000672.1:g.127477604C>T	GRCh37
NC_000010.9:g.127467594C>T	NCBI36
NG_011557.1:g.39234G>A
NG_011557.2:g.39234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.661-30G>A	ENSP00000518871.1:n.661-30G>A
ENST00000368797.10:c.661-30G>A MANE Select	ENSP00000357787.4:n.661-30G>A
ENST00000465577.6:c.681-30G>A
ENST00000648427.1:c.*659-30G>A	ENSP00000497909.1:n.*659-30G>A
ENST00000649536.1:c.661-30G>A	ENSP00000497817.1:n.661-30G>A
ENST00000650185.1:c.811-30G>A
ENST00000650472.1:n.3047-30G>A
ENST00000650524.1:c.574-30G>A	ENSP00000498108.1:n.574-30G>A
ENST00000650587.1:c.742-30G>A	ENSP00000497366.1:n.742-30G>A
ENST00000368786.5:c.661-30G>A	ENSP00000357775.1:n.661-30G>A
ENST00000368797.8:c.661-30G>A	ENSP00000357787.4:n.661-30G>A
ENST00000464267.1:n.758-30G>A
ENST00000465577.5:n.303-30G>A
ENST00000470483.1:n.349-30G>A
ENST00000484541.5:n.434-30G>A
ENST00000616800.4:c.161-3775G>A
ENST00000622016.4:c.241-3196G>A	ENSP00000483041.1:n.241-3196G>A
NM_000375.2:c.661-30G>A	NP_000366.1:n.661-30G>A
XM_005270137.2:c.742-30G>A	XP_005270194.1:n.742-30G>A
XM_005270138.2:c.661-30G>A	XP_005270195.1:n.661-30G>A
XM_005270139.2:c.661-3196G>A	XP_005270196.1:n.661-3196G>A
XM_006717960.2:c.742-30G>A	XP_006718023.1:n.742-30G>A
XM_011540127.1:c.661-3775G>A	XP_011538429.1:n.661-3775G>A
XR_246103.2:n.841-30G>A
XR_945810.1:n.1071-30G>A
NM_000375.3:c.661-30G>A MANE Select	NP_000366.1:n.661-30G>A
NM_001324036.1:c.742-30G>A	NP_001310965.1:n.742-30G>A
NM_001324037.1:c.661-30G>A	NP_001310966.1:n.661-30G>A
NM_001324038.1:c.580-30G>A	NP_001310967.1:n.580-30G>A
NR_136675.1:n.746-30G>A
NR_136676.1:n.1173-30G>A
NR_136677.1:n.927-3196G>A
NR_136678.1:n.657-30G>A
XM_011540127.2:c.661-3775G>A	XP_011538429.1:n.661-3775G>A
XM_017016611.2:c.742-30G>A	XP_016872100.2:n.742-30G>A
XM_017016612.2:c.661-3196G>A	XP_016872101.1:n.661-3196G>A
XM_024448154.1:c.661-30G>A	XP_024303922.1:n.661-30G>A
XR_002957010.1:n.2000-30G>A
XR_246103.3:n.856-30G>A
XR_945810.2:n.1086-30G>A
NM_001324036.2:c.742-30G>A	NP_001310965.1:n.742-30G>A
NM_001324037.2:c.661-30G>A	NP_001310966.1:n.661-30G>A
NM_001324038.2:c.580-30G>A	NP_001310967.1:n.580-30G>A
NR_136675.2:n.736-30G>A
NR_136676.2:n.1163-30G>A
NR_136678.2:n.647-30G>A
NR_136677.2:n.917-3196G>A