Canonical Allele Identifier: CA378685462

Gene: UROS

Linked Data

• gnomAD v4: 10-125788872-C-A
• MyVariant Identifiers: chr10:g.127477441C>A (hg19) ; chr10:g.125788872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788872C>A , CM000672.2:g.125788872C>A	GRCh38
NC_000010.10:g.127477441C>A , CM000672.1:g.127477441C>A	GRCh37
NC_000010.9:g.127467431C>A	NCBI36
NG_011557.1:g.39397G>T
NG_011557.2:g.39397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.794G>T	ENSP00000518871.1:p.Cys265Phe
ENST00000368797.10:c.794G>T MANE Select	ENSP00000357787.4:p.Cys265Phe
ENST00000465577.6:c.814G>T
ENST00000648427.1:c.*792G>T	ENSP00000497909.1:n.*792G>T
ENST00000649536.1:c.794G>T	ENSP00000497817.1:p.Cys265Phe
ENST00000650472.1:n.3180G>T
ENST00000650524.1:c.707G>T	ENSP00000498108.1:n.707G>T
ENST00000650587.1:c.875G>T	ENSP00000497366.1:p.Cys292Phe
ENST00000368786.5:c.794G>T	ENSP00000357775.1:p.Cys265Phe
ENST00000368797.8:c.794G>T	ENSP00000357787.4:p.Cys265Phe
ENST00000464267.1:n.891G>T
ENST00000465577.5:n.436G>T
ENST00000470483.1:n.482G>T
ENST00000484541.5:n.567G>T
ENST00000616800.4:c.161-3612G>T
ENST00000622016.4:c.241-3033G>T	ENSP00000483041.1:n.241-3033G>T
NM_000375.2:c.794G>T	NP_000366.1:p.Cys265Phe
XM_005270137.2:c.875G>T	XP_005270194.1:p.Cys292Phe
XM_005270138.2:c.794G>T	XP_005270195.1:p.Cys265Phe
XM_005270139.2:c.661-3033G>T	XP_005270196.1:n.661-3033G>T
XM_006717960.2:c.875G>T	XP_006718023.1:p.Cys292Phe
XM_011540127.1:c.661-3612G>T	XP_011538429.1:n.661-3612G>T
XR_246103.2:n.974G>T
XR_945810.1:n.1204G>T
NM_000375.3:c.794G>T MANE Select	NP_000366.1:p.Cys265Phe
NM_001324036.1:c.875G>T	NP_001310965.1:p.Cys292Phe
NM_001324037.1:c.794G>T	NP_001310966.1:p.Cys265Phe
NM_001324038.1:c.713G>T	NP_001310967.1:p.Cys238Phe
NR_136675.1:n.879G>T
NR_136676.1:n.1306G>T
NR_136677.1:n.927-3033G>T
NR_136678.1:n.790G>T
XM_011540127.2:c.661-3612G>T	XP_011538429.1:n.661-3612G>T
XM_017016611.2:c.875G>T	XP_016872100.2:p.Cys292Phe
XM_017016612.2:c.661-3033G>T	XP_016872101.1:n.661-3033G>T
XM_024448154.1:c.794G>T	XP_024303922.1:p.Cys265Phe
XR_002957010.1:n.2133G>T
XR_246103.3:n.989G>T
XR_945810.2:n.1219G>T
NM_001324036.2:c.875G>T	NP_001310965.1:p.Cys292Phe
NM_001324037.2:c.794G>T	NP_001310966.1:p.Cys265Phe
NM_001324038.2:c.713G>T	NP_001310967.1:p.Cys238Phe
NR_136675.2:n.869G>T
NR_136676.2:n.1296G>T
NR_136678.2:n.780G>T
NR_136677.2:n.917-3033G>T