Canonical Allele Identifier: CA378685510

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477454G>A (hg19) ; chr10:g.125788885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788885G>A , CM000672.2:g.125788885G>A	GRCh38
NC_000010.10:g.127477454G>A , CM000672.1:g.127477454G>A	GRCh37
NC_000010.9:g.127467444G>A	NCBI36
NG_011557.1:g.39384C>T
NG_011557.2:g.39384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.781C>T	ENSP00000518871.1:p.Pro261Ser
ENST00000368797.10:c.781C>T MANE Select	ENSP00000357787.4:p.Pro261Ser
ENST00000465577.6:c.801C>T
ENST00000648427.1:c.*779C>T	ENSP00000497909.1:n.*779C>T
ENST00000649536.1:c.781C>T	ENSP00000497817.1:p.Pro261Ser
ENST00000650472.1:n.3167C>T
ENST00000650524.1:c.694C>T	ENSP00000498108.1:n.694C>T
ENST00000650587.1:c.862C>T	ENSP00000497366.1:p.Pro288Ser
ENST00000368786.5:c.781C>T	ENSP00000357775.1:p.Pro261Ser
ENST00000368797.8:c.781C>T	ENSP00000357787.4:p.Pro261Ser
ENST00000464267.1:n.878C>T
ENST00000465577.5:n.423C>T
ENST00000470483.1:n.469C>T
ENST00000484541.5:n.554C>T
ENST00000616800.4:c.161-3625C>T
ENST00000622016.4:c.241-3046C>T	ENSP00000483041.1:n.241-3046C>T
NM_000375.2:c.781C>T	NP_000366.1:p.Pro261Ser
XM_005270137.2:c.862C>T	XP_005270194.1:p.Pro288Ser
XM_005270138.2:c.781C>T	XP_005270195.1:p.Pro261Ser
XM_005270139.2:c.661-3046C>T	XP_005270196.1:n.661-3046C>T
XM_006717960.2:c.862C>T	XP_006718023.1:p.Pro288Ser
XM_011540127.1:c.661-3625C>T	XP_011538429.1:n.661-3625C>T
XR_246103.2:n.961C>T
XR_945810.1:n.1191C>T
NM_000375.3:c.781C>T MANE Select	NP_000366.1:p.Pro261Ser
NM_001324036.1:c.862C>T	NP_001310965.1:p.Pro288Ser
NM_001324037.1:c.781C>T	NP_001310966.1:p.Pro261Ser
NM_001324038.1:c.700C>T	NP_001310967.1:p.Pro234Ser
NR_136675.1:n.866C>T
NR_136676.1:n.1293C>T
NR_136677.1:n.927-3046C>T
NR_136678.1:n.777C>T
XM_011540127.2:c.661-3625C>T	XP_011538429.1:n.661-3625C>T
XM_017016611.2:c.862C>T	XP_016872100.2:p.Pro288Ser
XM_017016612.2:c.661-3046C>T	XP_016872101.1:n.661-3046C>T
XM_024448154.1:c.781C>T	XP_024303922.1:p.Pro261Ser
XR_002957010.1:n.2120C>T
XR_246103.3:n.976C>T
XR_945810.2:n.1206C>T
NM_001324036.2:c.862C>T	NP_001310965.1:p.Pro288Ser
NM_001324037.2:c.781C>T	NP_001310966.1:p.Pro261Ser
NM_001324038.2:c.700C>T	NP_001310967.1:p.Pro234Ser
NR_136675.2:n.856C>T
NR_136676.2:n.1283C>T
NR_136678.2:n.767C>T
NR_136677.2:n.917-3046C>T