Canonical Allele Identifier: CA378685532

Gene: UROS

Linked Data

• gnomAD v4: 10-125788890-A-G
• MyVariant Identifiers: chr10:g.127477459A>G (hg19) ; chr10:g.125788890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788890A>G , CM000672.2:g.125788890A>G	GRCh38
NC_000010.10:g.127477459A>G , CM000672.1:g.127477459A>G	GRCh37
NC_000010.9:g.127467449A>G	NCBI36
NG_011557.1:g.39379T>C
NG_011557.2:g.39379T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.776T>C	ENSP00000518871.1:p.Leu259Pro
ENST00000368797.10:c.776T>C MANE Select	ENSP00000357787.4:p.Leu259Pro
ENST00000465577.6:c.796T>C
ENST00000648427.1:c.*774T>C	ENSP00000497909.1:n.*774T>C
ENST00000649536.1:c.776T>C	ENSP00000497817.1:p.Leu259Pro
ENST00000650472.1:n.3162T>C
ENST00000650524.1:c.689T>C	ENSP00000498108.1:n.689T>C
ENST00000650587.1:c.857T>C	ENSP00000497366.1:p.Leu286Pro
ENST00000368786.5:c.776T>C	ENSP00000357775.1:p.Leu259Pro
ENST00000368797.8:c.776T>C	ENSP00000357787.4:p.Leu259Pro
ENST00000464267.1:n.873T>C
ENST00000465577.5:n.418T>C
ENST00000470483.1:n.464T>C
ENST00000484541.5:n.549T>C
ENST00000616800.4:c.161-3630T>C
ENST00000622016.4:c.241-3051T>C	ENSP00000483041.1:n.241-3051T>C
NM_000375.2:c.776T>C	NP_000366.1:p.Leu259Pro
XM_005270137.2:c.857T>C	XP_005270194.1:p.Leu286Pro
XM_005270138.2:c.776T>C	XP_005270195.1:p.Leu259Pro
XM_005270139.2:c.661-3051T>C	XP_005270196.1:n.661-3051T>C
XM_006717960.2:c.857T>C	XP_006718023.1:p.Leu286Pro
XM_011540127.1:c.661-3630T>C	XP_011538429.1:n.661-3630T>C
XR_246103.2:n.956T>C
XR_945810.1:n.1186T>C
NM_000375.3:c.776T>C MANE Select	NP_000366.1:p.Leu259Pro
NM_001324036.1:c.857T>C	NP_001310965.1:p.Leu286Pro
NM_001324037.1:c.776T>C	NP_001310966.1:p.Leu259Pro
NM_001324038.1:c.695T>C	NP_001310967.1:p.Leu232Pro
NR_136675.1:n.861T>C
NR_136676.1:n.1288T>C
NR_136677.1:n.927-3051T>C
NR_136678.1:n.772T>C
XM_011540127.2:c.661-3630T>C	XP_011538429.1:n.661-3630T>C
XM_017016611.2:c.857T>C	XP_016872100.2:p.Leu286Pro
XM_017016612.2:c.661-3051T>C	XP_016872101.1:n.661-3051T>C
XM_024448154.1:c.776T>C	XP_024303922.1:p.Leu259Pro
XR_002957010.1:n.2115T>C
XR_246103.3:n.971T>C
XR_945810.2:n.1201T>C
NM_001324036.2:c.857T>C	NP_001310965.1:p.Leu286Pro
NM_001324037.2:c.776T>C	NP_001310966.1:p.Leu259Pro
NM_001324038.2:c.695T>C	NP_001310967.1:p.Leu232Pro
NR_136675.2:n.851T>C
NR_136676.2:n.1278T>C
NR_136678.2:n.762T>C
NR_136677.2:n.917-3051T>C