Canonical Allele Identifier: CA215305960

Gene: UROS

Linked Data

• dbSNP Id: rs1031041903
• gnomAD v3: 10-125816250-A-G
• gnomAD v4: 10-125816250-A-G
• MyVariant Identifiers: chr10:g.127504819A>G (hg19) ; chr10:g.125816250A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125816250A>G , CM000672.2:g.125816250A>G	GRCh38
NC_000010.10:g.127504819A>G , CM000672.1:g.127504819A>G	GRCh37
NC_000010.9:g.127494809A>G	NCBI36
NG_011557.1:g.12019T>C
NG_011557.2:g.12019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.74T>C	ENSP00000518871.1:p.Leu25Ser
ENST00000368797.10:c.74T>C MANE Select	ENSP00000357787.4:p.Leu25Ser
ENST00000648119.1:c.74T>C	ENSP00000497494.1:p.Leu25Ser
ENST00000648427.1:c.74T>C	ENSP00000497909.1:p.Leu25Ser
ENST00000649275.1:c.3T>C
ENST00000649450.1:n.111T>C
ENST00000649536.1:c.74T>C	ENSP00000497817.1:p.Leu25Ser
ENST00000650587.1:c.74T>C	ENSP00000497366.1:p.Leu25Ser
ENST00000368774.1:c.74T>C	ENSP00000357763.1:p.Leu25Ser
ENST00000368778.7:c.74T>C	ENSP00000357767.3:p.Leu25Ser
ENST00000368786.5:c.74T>C	ENSP00000357775.1:p.Leu25Ser
ENST00000368797.8:c.74T>C	ENSP00000357787.4:p.Leu25Ser
ENST00000420761.5:c.63+187T>C	ENSP00000414833.1:n.63+187T>C
NM_000375.2:c.74T>C	NP_000366.1:p.Leu25Ser
XM_005270137.2:c.74T>C	XP_005270194.1:p.Leu25Ser
XM_005270138.2:c.74T>C	XP_005270195.1:p.Leu25Ser
XM_005270139.2:c.74T>C	XP_005270196.1:p.Leu25Ser
XM_005270140.3:c.74T>C	XP_005270197.1:p.Leu25Ser
XM_005270141.1:c.74T>C	XP_005270198.1:p.Leu25Ser
XM_006717960.2:c.74T>C	XP_006718023.1:p.Leu25Ser
XM_011540126.1:c.74T>C	XP_011538428.1:p.Leu25Ser
XM_011540127.1:c.74T>C	XP_011538429.1:p.Leu25Ser
XR_246103.2:n.182T>C
XR_945809.1:n.182T>C
XR_945810.1:n.182T>C
NM_000375.3:c.74T>C MANE Select	NP_000366.1:p.Leu25Ser
NM_001324036.1:c.74T>C	NP_001310965.1:p.Leu25Ser
NM_001324037.1:c.74T>C	NP_001310966.1:p.Leu25Ser
NM_001324038.1:c.74T>C	NP_001310967.1:p.Leu25Ser
NM_001324039.1:c.74T>C	NP_001310968.1:p.Leu25Ser
NR_136675.1:n.329+187T>C
NR_136676.1:n.340T>C
NR_136677.1:n.340T>C
NR_136678.1:n.241-3962T>C
XM_005270140.5:c.74T>C	XP_005270197.1:p.Leu25Ser
XM_011540127.2:c.74T>C	XP_011538429.1:p.Leu25Ser
XM_017016611.2:c.74T>C	XP_016872100.2:p.Leu25Ser
XM_017016612.2:c.74T>C	XP_016872101.1:p.Leu25Ser
XM_024448154.1:c.74T>C	XP_024303922.1:p.Leu25Ser
XM_024448155.1:c.74T>C	XP_024303923.1:p.Leu25Ser
XR_001747196.2:n.197T>C
XR_001747197.2:n.197T>C
XR_002957009.1:n.197T>C
XR_002957010.1:n.138T>C
XR_246103.3:n.197T>C
XR_945810.2:n.197T>C
NM_001324036.2:c.74T>C	NP_001310965.1:p.Leu25Ser
NM_001324037.2:c.74T>C	NP_001310966.1:p.Leu25Ser
NM_001324038.2:c.74T>C	NP_001310967.1:p.Leu25Ser
NR_136675.2:n.319+187T>C
NR_136676.2:n.330T>C
NR_136678.2:n.231-3962T>C
NM_001324039.2:c.74T>C	NP_001310968.1:p.Leu25Ser
NR_136677.2:n.330T>C