Canonical Allele Identifier: CA10576008

Gene: UROS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823221G>T , CM000672.2:g.125823221G>T	GRCh38
NC_000010.10:g.127511790G>T , CM000672.1:g.127511790G>T	GRCh37
NC_000010.9:g.127501780G>T	NCBI36
NG_011557.1:g.5048C>A
NG_029095.1:g.4687G>T
NG_011557.2:g.5048C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.-219C>A	ENSP00000518871.1:n.-219C>A
ENST00000368797.10:c.-219C>A MANE Select	ENSP00000357787.4:n.-219C>A
ENST00000368797.8:c.-219C>A	ENSP00000357787.4:n.-219C>A
ENST00000420761.5:c.-219C>A	ENSP00000414833.1:n.-219C>A
NM_000375.2:c.-219C>A	NP_000366.1:n.-219C>A
XM_006717960.2:c.-41C>A	XP_006718023.1:n.-41C>A
NM_000375.3:c.-219C>A MANE Select	NP_000366.1:n.-219C>A
NM_001324036.1:c.-219C>A	NP_001310965.1:n.-219C>A
NM_001324037.1:c.-219C>A	NP_001310966.1:n.-219C>A
NM_001324038.1:c.-219C>A	NP_001310967.1:n.-219C>A
NM_001324039.1:c.-219C>A	NP_001310968.1:n.-219C>A
NR_136675.1:n.48C>A
NR_136676.1:n.48C>A
NR_136677.1:n.48C>A
NR_136678.1:n.48C>A
XM_017016611.2:c.-41C>A	XP_016872100.2:n.-41C>A
XM_024448154.1:c.-41C>A	XP_024303922.1:n.-41C>A
XM_024448155.1:c.-219C>A	XP_024303923.1:n.-219C>A
XR_002957010.1:n.24C>A
NM_001324036.2:c.-219C>A	NP_001310965.1:n.-219C>A
NM_001324037.2:c.-219C>A	NP_001310966.1:n.-219C>A
NM_001324038.2:c.-219C>A	NP_001310967.1:n.-219C>A
NR_136675.2:n.38C>A
NR_136676.2:n.38C>A
NR_136678.2:n.38C>A
NM_001324039.2:c.-219C>A	NP_001310968.1:n.-219C>A
NR_136677.2:n.38C>A