Canonical Allele Identifier: CA378685636

Gene: UROS

Linked Data

• gnomAD v4: 10-125788917-G-A
• MyVariant Identifiers: chr10:g.127477486G>A (hg19) ; chr10:g.125788917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788917G>A , CM000672.2:g.125788917G>A	GRCh38
NC_000010.10:g.127477486G>A , CM000672.1:g.127477486G>A	GRCh37
NC_000010.9:g.127467476G>A	NCBI36
NG_011557.1:g.39352C>T
NG_011557.2:g.39352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.749C>T	ENSP00000518871.1:p.Ala250Val
ENST00000368797.10:c.749C>T MANE Select	ENSP00000357787.4:p.Ala250Val
ENST00000465577.6:c.769C>T
ENST00000648427.1:c.*747C>T	ENSP00000497909.1:n.*747C>T
ENST00000649536.1:c.749C>T	ENSP00000497817.1:p.Ala250Val
ENST00000650185.1:c.899C>T
ENST00000650472.1:n.3135C>T
ENST00000650524.1:c.662C>T	ENSP00000498108.1:n.662C>T
ENST00000650587.1:c.830C>T	ENSP00000497366.1:p.Ala277Val
ENST00000368786.5:c.749C>T	ENSP00000357775.1:p.Ala250Val
ENST00000368797.8:c.749C>T	ENSP00000357787.4:p.Ala250Val
ENST00000464267.1:n.846C>T
ENST00000465577.5:n.391C>T
ENST00000470483.1:n.437C>T
ENST00000484541.5:n.522C>T
ENST00000616800.4:c.161-3657C>T
ENST00000622016.4:c.241-3078C>T	ENSP00000483041.1:n.241-3078C>T
NM_000375.2:c.749C>T	NP_000366.1:p.Ala250Val
XM_005270137.2:c.830C>T	XP_005270194.1:p.Ala277Val
XM_005270138.2:c.749C>T	XP_005270195.1:p.Ala250Val
XM_005270139.2:c.661-3078C>T	XP_005270196.1:n.661-3078C>T
XM_006717960.2:c.830C>T	XP_006718023.1:p.Ala277Val
XM_011540127.1:c.661-3657C>T	XP_011538429.1:n.661-3657C>T
XR_246103.2:n.929C>T
XR_945810.1:n.1159C>T
NM_000375.3:c.749C>T MANE Select	NP_000366.1:p.Ala250Val
NM_001324036.1:c.830C>T	NP_001310965.1:p.Ala277Val
NM_001324037.1:c.749C>T	NP_001310966.1:p.Ala250Val
NM_001324038.1:c.668C>T	NP_001310967.1:p.Ala223Val
NR_136675.1:n.834C>T
NR_136676.1:n.1261C>T
NR_136677.1:n.927-3078C>T
NR_136678.1:n.745C>T
XM_011540127.2:c.661-3657C>T	XP_011538429.1:n.661-3657C>T
XM_017016611.2:c.830C>T	XP_016872100.2:p.Ala277Val
XM_017016612.2:c.661-3078C>T	XP_016872101.1:n.661-3078C>T
XM_024448154.1:c.749C>T	XP_024303922.1:p.Ala250Val
XR_002957010.1:n.2088C>T
XR_246103.3:n.944C>T
XR_945810.2:n.1174C>T
NM_001324036.2:c.830C>T	NP_001310965.1:p.Ala277Val
NM_001324037.2:c.749C>T	NP_001310966.1:p.Ala250Val
NM_001324038.2:c.668C>T	NP_001310967.1:p.Ala223Val
NR_136675.2:n.824C>T
NR_136676.2:n.1251C>T
NR_136678.2:n.735C>T
NR_136677.2:n.917-3078C>T