Canonical Allele Identifier: CA215313010

Gene: UROS

Linked Data

• ClinVar Variation Id: 880399
• ClinVar RCV Id: RCV001108666
• dbSNP Id: rs985442867
• gnomAD v3: 10-125823136-G-T
• gnomAD v4: 10-125823136-G-T
• MyVariant Identifiers: chr10:g.127511705G>T (hg19) ; chr10:g.125823136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823136G>T , CM000672.2:g.125823136G>T	GRCh38
NC_000010.10:g.127511705G>T , CM000672.1:g.127511705G>T	GRCh37
NC_000010.9:g.127501695G>T	NCBI36
NG_011557.1:g.5133C>A
NG_029095.1:g.4602G>T
NG_011557.2:g.5133C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.-134C>A	ENSP00000518871.1:n.-134C>A
ENST00000368797.10:c.-134C>A MANE Select	ENSP00000357787.4:n.-134C>A
ENST00000648119.1:c.-134C>A	ENSP00000497494.1:n.-134C>A
ENST00000648427.1:c.-134C>A	ENSP00000497909.1:n.-134C>A
ENST00000649536.1:c.-134C>A	ENSP00000497817.1:n.-134C>A
ENST00000368778.7:c.-134C>A	ENSP00000357767.3:n.-134C>A
ENST00000368797.8:c.-134C>A	ENSP00000357787.4:n.-134C>A
ENST00000420761.5:c.-134C>A	ENSP00000414833.1:n.-134C>A
NM_000375.2:c.-134C>A	NP_000366.1:n.-134C>A
XM_006717960.2:c.-27+71C>A	XP_006718023.1:n.-27+71C>A
NM_000375.3:c.-134C>A MANE Select	NP_000366.1:n.-134C>A
NM_001324036.1:c.-134C>A	NP_001310965.1:n.-134C>A
NM_001324037.1:c.-134C>A	NP_001310966.1:n.-134C>A
NM_001324038.1:c.-134C>A	NP_001310967.1:n.-134C>A
NM_001324039.1:c.-134C>A	NP_001310968.1:n.-134C>A
NR_136675.1:n.133C>A
NR_136676.1:n.133C>A
NR_136677.1:n.133C>A
NR_136678.1:n.133C>A
XM_017016611.2:c.-27+71C>A	XP_016872100.2:n.-27+71C>A
XM_024448154.1:c.-27+71C>A	XP_024303922.1:n.-27+71C>A
XM_024448155.1:c.-134C>A	XP_024303923.1:n.-134C>A
XR_002957010.1:n.38+71C>A
NM_001324036.2:c.-134C>A	NP_001310965.1:n.-134C>A
NM_001324037.2:c.-134C>A	NP_001310966.1:n.-134C>A
NM_001324038.2:c.-134C>A	NP_001310967.1:n.-134C>A
NR_136675.2:n.123C>A
NR_136676.2:n.123C>A
NR_136678.2:n.123C>A
NM_001324039.2:c.-134C>A	NP_001310968.1:n.-134C>A
NR_136677.2:n.123C>A