Canonical Allele Identifier: CA378685536

Gene: UROS

Linked Data

• dbSNP Id: rs1478591824
• gnomAD v3: 10-125788891-G-A
• gnomAD v4: 10-125788891-G-A
• MyVariant Identifiers: chr10:g.127477460G>A (hg19) ; chr10:g.125788891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788891G>A , CM000672.2:g.125788891G>A	GRCh38
NC_000010.10:g.127477460G>A , CM000672.1:g.127477460G>A	GRCh37
NC_000010.9:g.127467450G>A	NCBI36
NG_011557.1:g.39378C>T
NG_011557.2:g.39378C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.775C>T	ENSP00000518871.1:p.Leu259Phe
ENST00000368797.10:c.775C>T MANE Select	ENSP00000357787.4:p.Leu259Phe
ENST00000465577.6:c.795C>T
ENST00000648427.1:c.*773C>T	ENSP00000497909.1:n.*773C>T
ENST00000649536.1:c.775C>T	ENSP00000497817.1:p.Leu259Phe
ENST00000650472.1:n.3161C>T
ENST00000650524.1:c.688C>T	ENSP00000498108.1:n.688C>T
ENST00000650587.1:c.856C>T	ENSP00000497366.1:p.Leu286Phe
ENST00000368786.5:c.775C>T	ENSP00000357775.1:p.Leu259Phe
ENST00000368797.8:c.775C>T	ENSP00000357787.4:p.Leu259Phe
ENST00000464267.1:n.872C>T
ENST00000465577.5:n.417C>T
ENST00000470483.1:n.463C>T
ENST00000484541.5:n.548C>T
ENST00000616800.4:c.161-3631C>T
ENST00000622016.4:c.241-3052C>T	ENSP00000483041.1:n.241-3052C>T
NM_000375.2:c.775C>T	NP_000366.1:p.Leu259Phe
XM_005270137.2:c.856C>T	XP_005270194.1:p.Leu286Phe
XM_005270138.2:c.775C>T	XP_005270195.1:p.Leu259Phe
XM_005270139.2:c.661-3052C>T	XP_005270196.1:n.661-3052C>T
XM_006717960.2:c.856C>T	XP_006718023.1:p.Leu286Phe
XM_011540127.1:c.661-3631C>T	XP_011538429.1:n.661-3631C>T
XR_246103.2:n.955C>T
XR_945810.1:n.1185C>T
NM_000375.3:c.775C>T MANE Select	NP_000366.1:p.Leu259Phe
NM_001324036.1:c.856C>T	NP_001310965.1:p.Leu286Phe
NM_001324037.1:c.775C>T	NP_001310966.1:p.Leu259Phe
NM_001324038.1:c.694C>T	NP_001310967.1:p.Leu232Phe
NR_136675.1:n.860C>T
NR_136676.1:n.1287C>T
NR_136677.1:n.927-3052C>T
NR_136678.1:n.771C>T
XM_011540127.2:c.661-3631C>T	XP_011538429.1:n.661-3631C>T
XM_017016611.2:c.856C>T	XP_016872100.2:p.Leu286Phe
XM_017016612.2:c.661-3052C>T	XP_016872101.1:n.661-3052C>T
XM_024448154.1:c.775C>T	XP_024303922.1:p.Leu259Phe
XR_002957010.1:n.2114C>T
XR_246103.3:n.970C>T
XR_945810.2:n.1200C>T
NM_001324036.2:c.856C>T	NP_001310965.1:p.Leu286Phe
NM_001324037.2:c.775C>T	NP_001310966.1:p.Leu259Phe
NM_001324038.2:c.694C>T	NP_001310967.1:p.Leu232Phe
NR_136675.2:n.850C>T
NR_136676.2:n.1277C>T
NR_136678.2:n.761C>T
NR_136677.2:n.917-3052C>T