Canonical Allele Identifier: CA378685563

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477466T>A (hg19) ; chr10:g.125788897T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788897T>A , CM000672.2:g.125788897T>A	GRCh38
NC_000010.10:g.127477466T>A , CM000672.1:g.127477466T>A	GRCh37
NC_000010.9:g.127467456T>A	NCBI36
NG_011557.1:g.39372A>T
NG_011557.2:g.39372A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.769A>T	ENSP00000518871.1:p.Lys257Ter
ENST00000368797.10:c.769A>T MANE Select	ENSP00000357787.4:p.Lys257Ter
ENST00000465577.6:c.789A>T
ENST00000648427.1:c.*767A>T	ENSP00000497909.1:n.*767A>T
ENST00000649536.1:c.769A>T	ENSP00000497817.1:p.Lys257Ter
ENST00000650472.1:n.3155A>T
ENST00000650524.1:c.682A>T	ENSP00000498108.1:n.682A>T
ENST00000650587.1:c.850A>T	ENSP00000497366.1:p.Lys284Ter
ENST00000368786.5:c.769A>T	ENSP00000357775.1:p.Lys257Ter
ENST00000368797.8:c.769A>T	ENSP00000357787.4:p.Lys257Ter
ENST00000464267.1:n.866A>T
ENST00000465577.5:n.411A>T
ENST00000470483.1:n.457A>T
ENST00000484541.5:n.542A>T
ENST00000616800.4:c.161-3637A>T
ENST00000622016.4:c.241-3058A>T	ENSP00000483041.1:n.241-3058A>T
NM_000375.2:c.769A>T	NP_000366.1:p.Lys257Ter
XM_005270137.2:c.850A>T	XP_005270194.1:p.Lys284Ter
XM_005270138.2:c.769A>T	XP_005270195.1:p.Lys257Ter
XM_005270139.2:c.661-3058A>T	XP_005270196.1:n.661-3058A>T
XM_006717960.2:c.850A>T	XP_006718023.1:p.Lys284Ter
XM_011540127.1:c.661-3637A>T	XP_011538429.1:n.661-3637A>T
XR_246103.2:n.949A>T
XR_945810.1:n.1179A>T
NM_000375.3:c.769A>T MANE Select	NP_000366.1:p.Lys257Ter
NM_001324036.1:c.850A>T	NP_001310965.1:p.Lys284Ter
NM_001324037.1:c.769A>T	NP_001310966.1:p.Lys257Ter
NM_001324038.1:c.688A>T	NP_001310967.1:p.Lys230Ter
NR_136675.1:n.854A>T
NR_136676.1:n.1281A>T
NR_136677.1:n.927-3058A>T
NR_136678.1:n.765A>T
XM_011540127.2:c.661-3637A>T	XP_011538429.1:n.661-3637A>T
XM_017016611.2:c.850A>T	XP_016872100.2:p.Lys284Ter
XM_017016612.2:c.661-3058A>T	XP_016872101.1:n.661-3058A>T
XM_024448154.1:c.769A>T	XP_024303922.1:p.Lys257Ter
XR_002957010.1:n.2108A>T
XR_246103.3:n.964A>T
XR_945810.2:n.1194A>T
NM_001324036.2:c.850A>T	NP_001310965.1:p.Lys284Ter
NM_001324037.2:c.769A>T	NP_001310966.1:p.Lys257Ter
NM_001324038.2:c.688A>T	NP_001310967.1:p.Lys230Ter
NR_136675.2:n.844A>T
NR_136676.2:n.1271A>T
NR_136678.2:n.755A>T
NR_136677.2:n.917-3058A>T