Canonical Allele Identifier: CA378685630

Gene: UROS

Linked Data

• gnomAD v4: 10-125788914-A-T
• MyVariant Identifiers: chr10:g.127477483A>T (hg19) ; chr10:g.125788914A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788914A>T , CM000672.2:g.125788914A>T	GRCh38
NC_000010.10:g.127477483A>T , CM000672.1:g.127477483A>T	GRCh37
NC_000010.9:g.127467473A>T	NCBI36
NG_011557.1:g.39355T>A
NG_011557.2:g.39355T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.752T>A	ENSP00000518871.1:p.Leu251Gln
ENST00000368797.10:c.752T>A MANE Select	ENSP00000357787.4:p.Leu251Gln
ENST00000465577.6:c.772T>A
ENST00000648427.1:c.*750T>A	ENSP00000497909.1:n.*750T>A
ENST00000649536.1:c.752T>A	ENSP00000497817.1:p.Leu251Gln
ENST00000650472.1:n.3138T>A
ENST00000650524.1:c.665T>A	ENSP00000498108.1:n.665T>A
ENST00000650587.1:c.833T>A	ENSP00000497366.1:p.Leu278Gln
ENST00000368786.5:c.752T>A	ENSP00000357775.1:p.Leu251Gln
ENST00000368797.8:c.752T>A	ENSP00000357787.4:p.Leu251Gln
ENST00000464267.1:n.849T>A
ENST00000465577.5:n.394T>A
ENST00000470483.1:n.440T>A
ENST00000484541.5:n.525T>A
ENST00000616800.4:c.161-3654T>A
ENST00000622016.4:c.241-3075T>A	ENSP00000483041.1:n.241-3075T>A
NM_000375.2:c.752T>A	NP_000366.1:p.Leu251Gln
XM_005270137.2:c.833T>A	XP_005270194.1:p.Leu278Gln
XM_005270138.2:c.752T>A	XP_005270195.1:p.Leu251Gln
XM_005270139.2:c.661-3075T>A	XP_005270196.1:n.661-3075T>A
XM_006717960.2:c.833T>A	XP_006718023.1:p.Leu278Gln
XM_011540127.1:c.661-3654T>A	XP_011538429.1:n.661-3654T>A
XR_246103.2:n.932T>A
XR_945810.1:n.1162T>A
NM_000375.3:c.752T>A MANE Select	NP_000366.1:p.Leu251Gln
NM_001324036.1:c.833T>A	NP_001310965.1:p.Leu278Gln
NM_001324037.1:c.752T>A	NP_001310966.1:p.Leu251Gln
NM_001324038.1:c.671T>A	NP_001310967.1:p.Leu224Gln
NR_136675.1:n.837T>A
NR_136676.1:n.1264T>A
NR_136677.1:n.927-3075T>A
NR_136678.1:n.748T>A
XM_011540127.2:c.661-3654T>A	XP_011538429.1:n.661-3654T>A
XM_017016611.2:c.833T>A	XP_016872100.2:p.Leu278Gln
XM_017016612.2:c.661-3075T>A	XP_016872101.1:n.661-3075T>A
XM_024448154.1:c.752T>A	XP_024303922.1:p.Leu251Gln
XR_002957010.1:n.2091T>A
XR_246103.3:n.947T>A
XR_945810.2:n.1177T>A
NM_001324036.2:c.833T>A	NP_001310965.1:p.Leu278Gln
NM_001324037.2:c.752T>A	NP_001310966.1:p.Leu251Gln
NM_001324038.2:c.671T>A	NP_001310967.1:p.Leu224Gln
NR_136675.2:n.827T>A
NR_136676.2:n.1254T>A
NR_136678.2:n.738T>A
NR_136677.2:n.917-3075T>A