Canonical Allele Identifier: CA378685804

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477526G>T (hg19) ; chr10:g.125788957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788957G>T , CM000672.2:g.125788957G>T	GRCh38
NC_000010.10:g.127477526G>T , CM000672.1:g.127477526G>T	GRCh37
NC_000010.9:g.127467516G>T	NCBI36
NG_011557.1:g.39312C>A
NG_011557.2:g.39312C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.709C>A	ENSP00000518871.1:p.Leu237Ile
ENST00000368797.10:c.709C>A MANE Select	ENSP00000357787.4:p.Leu237Ile
ENST00000465577.6:c.729C>A
ENST00000648427.1:c.*707C>A	ENSP00000497909.1:n.*707C>A
ENST00000649536.1:c.709C>A	ENSP00000497817.1:p.Leu237Ile
ENST00000650185.1:c.859C>A
ENST00000650472.1:n.3095C>A
ENST00000650524.1:c.622C>A	ENSP00000498108.1:n.622C>A
ENST00000650587.1:c.790C>A	ENSP00000497366.1:p.Leu264Ile
ENST00000368786.5:c.709C>A	ENSP00000357775.1:p.Leu237Ile
ENST00000368797.8:c.709C>A	ENSP00000357787.4:p.Leu237Ile
ENST00000464267.1:n.806C>A
ENST00000465577.5:n.351C>A
ENST00000470483.1:n.397C>A
ENST00000484541.5:n.482C>A
ENST00000616800.4:c.161-3697C>A
ENST00000622016.4:c.241-3118C>A	ENSP00000483041.1:n.241-3118C>A
NM_000375.2:c.709C>A	NP_000366.1:p.Leu237Ile
XM_005270137.2:c.790C>A	XP_005270194.1:p.Leu264Ile
XM_005270138.2:c.709C>A	XP_005270195.1:p.Leu237Ile
XM_005270139.2:c.661-3118C>A	XP_005270196.1:n.661-3118C>A
XM_006717960.2:c.790C>A	XP_006718023.1:p.Leu264Ile
XM_011540127.1:c.661-3697C>A	XP_011538429.1:n.661-3697C>A
XR_246103.2:n.889C>A
XR_945810.1:n.1119C>A
NM_000375.3:c.709C>A MANE Select	NP_000366.1:p.Leu237Ile
NM_001324036.1:c.790C>A	NP_001310965.1:p.Leu264Ile
NM_001324037.1:c.709C>A	NP_001310966.1:p.Leu237Ile
NM_001324038.1:c.628C>A	NP_001310967.1:p.Leu210Ile
NR_136675.1:n.794C>A
NR_136676.1:n.1221C>A
NR_136677.1:n.927-3118C>A
NR_136678.1:n.705C>A
XM_011540127.2:c.661-3697C>A	XP_011538429.1:n.661-3697C>A
XM_017016611.2:c.790C>A	XP_016872100.2:p.Leu264Ile
XM_017016612.2:c.661-3118C>A	XP_016872101.1:n.661-3118C>A
XM_024448154.1:c.709C>A	XP_024303922.1:p.Leu237Ile
XR_002957010.1:n.2048C>A
XR_246103.3:n.904C>A
XR_945810.2:n.1134C>A
NM_001324036.2:c.790C>A	NP_001310965.1:p.Leu264Ile
NM_001324037.2:c.709C>A	NP_001310966.1:p.Leu237Ile
NM_001324038.2:c.628C>A	NP_001310967.1:p.Leu210Ile
NR_136675.2:n.784C>A
NR_136676.2:n.1211C>A
NR_136678.2:n.695C>A
NR_136677.2:n.917-3118C>A