Canonical Allele Identifier: CA378685543

Gene: UROS

Linked Data

• gnomAD v4: 10-125788893-G-T
• MyVariant Identifiers: chr10:g.127477462G>T (hg19) ; chr10:g.125788893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788893G>T , CM000672.2:g.125788893G>T	GRCh38
NC_000010.10:g.127477462G>T , CM000672.1:g.127477462G>T	GRCh37
NC_000010.9:g.127467452G>T	NCBI36
NG_011557.1:g.39376C>A
NG_011557.2:g.39376C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.773C>A	ENSP00000518871.1:p.Ala258Asp
ENST00000368797.10:c.773C>A MANE Select	ENSP00000357787.4:p.Ala258Asp
ENST00000465577.6:c.793C>A
ENST00000648427.1:c.*771C>A	ENSP00000497909.1:n.*771C>A
ENST00000649536.1:c.773C>A	ENSP00000497817.1:p.Ala258Asp
ENST00000650472.1:n.3159C>A
ENST00000650524.1:c.686C>A	ENSP00000498108.1:n.686C>A
ENST00000650587.1:c.854C>A	ENSP00000497366.1:p.Ala285Asp
ENST00000368786.5:c.773C>A	ENSP00000357775.1:p.Ala258Asp
ENST00000368797.8:c.773C>A	ENSP00000357787.4:p.Ala258Asp
ENST00000464267.1:n.870C>A
ENST00000465577.5:n.415C>A
ENST00000470483.1:n.461C>A
ENST00000484541.5:n.546C>A
ENST00000616800.4:c.161-3633C>A
ENST00000622016.4:c.241-3054C>A	ENSP00000483041.1:n.241-3054C>A
NM_000375.2:c.773C>A	NP_000366.1:p.Ala258Asp
XM_005270137.2:c.854C>A	XP_005270194.1:p.Ala285Asp
XM_005270138.2:c.773C>A	XP_005270195.1:p.Ala258Asp
XM_005270139.2:c.661-3054C>A	XP_005270196.1:n.661-3054C>A
XM_006717960.2:c.854C>A	XP_006718023.1:p.Ala285Asp
XM_011540127.1:c.661-3633C>A	XP_011538429.1:n.661-3633C>A
XR_246103.2:n.953C>A
XR_945810.1:n.1183C>A
NM_000375.3:c.773C>A MANE Select	NP_000366.1:p.Ala258Asp
NM_001324036.1:c.854C>A	NP_001310965.1:p.Ala285Asp
NM_001324037.1:c.773C>A	NP_001310966.1:p.Ala258Asp
NM_001324038.1:c.692C>A	NP_001310967.1:p.Ala231Asp
NR_136675.1:n.858C>A
NR_136676.1:n.1285C>A
NR_136677.1:n.927-3054C>A
NR_136678.1:n.769C>A
XM_011540127.2:c.661-3633C>A	XP_011538429.1:n.661-3633C>A
XM_017016611.2:c.854C>A	XP_016872100.2:p.Ala285Asp
XM_017016612.2:c.661-3054C>A	XP_016872101.1:n.661-3054C>A
XM_024448154.1:c.773C>A	XP_024303922.1:p.Ala258Asp
XR_002957010.1:n.2112C>A
XR_246103.3:n.968C>A
XR_945810.2:n.1198C>A
NM_001324036.2:c.854C>A	NP_001310965.1:p.Ala285Asp
NM_001324037.2:c.773C>A	NP_001310966.1:p.Ala258Asp
NM_001324038.2:c.692C>A	NP_001310967.1:p.Ala231Asp
NR_136675.2:n.848C>A
NR_136676.2:n.1275C>A
NR_136678.2:n.759C>A
NR_136677.2:n.917-3054C>A