Canonical Allele Identifier: CA378685856

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477541G>C (hg19) ; chr10:g.125788972G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788972G>C , CM000672.2:g.125788972G>C	GRCh38
NC_000010.10:g.127477541G>C , CM000672.1:g.127477541G>C	GRCh37
NC_000010.9:g.127467531G>C	NCBI36
NG_011557.1:g.39297C>G
NG_011557.2:g.39297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.694C>G	ENSP00000518871.1:p.Leu232Val
ENST00000368797.10:c.694C>G MANE Select	ENSP00000357787.4:p.Leu232Val
ENST00000465577.6:c.714C>G
ENST00000648427.1:c.*692C>G	ENSP00000497909.1:n.*692C>G
ENST00000649536.1:c.694C>G	ENSP00000497817.1:p.Leu232Val
ENST00000650185.1:c.844C>G
ENST00000650472.1:n.3080C>G
ENST00000650524.1:c.607C>G	ENSP00000498108.1:n.607C>G
ENST00000650587.1:c.775C>G	ENSP00000497366.1:p.Leu259Val
ENST00000368786.5:c.694C>G	ENSP00000357775.1:p.Leu232Val
ENST00000368797.8:c.694C>G	ENSP00000357787.4:p.Leu232Val
ENST00000464267.1:n.791C>G
ENST00000465577.5:n.336C>G
ENST00000470483.1:n.382C>G
ENST00000484541.5:n.467C>G
ENST00000616800.4:c.161-3712C>G
ENST00000622016.4:c.241-3133C>G	ENSP00000483041.1:n.241-3133C>G
NM_000375.2:c.694C>G	NP_000366.1:p.Leu232Val
XM_005270137.2:c.775C>G	XP_005270194.1:p.Leu259Val
XM_005270138.2:c.694C>G	XP_005270195.1:p.Leu232Val
XM_005270139.2:c.661-3133C>G	XP_005270196.1:n.661-3133C>G
XM_006717960.2:c.775C>G	XP_006718023.1:p.Leu259Val
XM_011540127.1:c.661-3712C>G	XP_011538429.1:n.661-3712C>G
XR_246103.2:n.874C>G
XR_945810.1:n.1104C>G
NM_000375.3:c.694C>G MANE Select	NP_000366.1:p.Leu232Val
NM_001324036.1:c.775C>G	NP_001310965.1:p.Leu259Val
NM_001324037.1:c.694C>G	NP_001310966.1:p.Leu232Val
NM_001324038.1:c.613C>G	NP_001310967.1:p.Leu205Val
NR_136675.1:n.779C>G
NR_136676.1:n.1206C>G
NR_136677.1:n.927-3133C>G
NR_136678.1:n.690C>G
XM_011540127.2:c.661-3712C>G	XP_011538429.1:n.661-3712C>G
XM_017016611.2:c.775C>G	XP_016872100.2:p.Leu259Val
XM_017016612.2:c.661-3133C>G	XP_016872101.1:n.661-3133C>G
XM_024448154.1:c.694C>G	XP_024303922.1:p.Leu232Val
XR_002957010.1:n.2033C>G
XR_246103.3:n.889C>G
XR_945810.2:n.1119C>G
NM_001324036.2:c.775C>G	NP_001310965.1:p.Leu259Val
NM_001324037.2:c.694C>G	NP_001310966.1:p.Leu232Val
NM_001324038.2:c.613C>G	NP_001310967.1:p.Leu205Val
NR_136675.2:n.769C>G
NR_136676.2:n.1196C>G
NR_136678.2:n.680C>G
NR_136677.2:n.917-3133C>G