Canonical Allele Identifier: CA5738329

Gene: UROS

Linked Data

• ClinVar Variation Id: 2866524
• ClinVar RCV Id: RCV003700287
• dbSNP Id: rs369972241
• ExAC: 10:127477557 G / A
• gnomAD v2: 10-127477557-G-A
• gnomAD v3: 10-125788988-G-A
• gnomAD v4: 10-125788988-G-A
• COSMIC: COSM2021700
• MyVariant Identifiers: chr10:g.127477557G>A (hg19) ; chr10:g.125788988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788988G>A , CM000672.2:g.125788988G>A	GRCh38
NC_000010.10:g.127477557G>A , CM000672.1:g.127477557G>A	GRCh37
NC_000010.9:g.127467547G>A	NCBI36
NG_011557.1:g.39281C>T
NG_011557.2:g.39281C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.678C>T	ENSP00000518871.1:p.Pro226=
ENST00000368797.10:c.678C>T MANE Select	ENSP00000357787.4:p.Pro226=
ENST00000465577.6:c.698C>T
ENST00000648427.1:c.*676C>T	ENSP00000497909.1:n.*676C>T
ENST00000649536.1:c.678C>T	ENSP00000497817.1:p.Pro226=
ENST00000650185.1:c.828C>T
ENST00000650472.1:n.3064C>T
ENST00000650524.1:c.591C>T	ENSP00000498108.1:n.591C>T
ENST00000650587.1:c.759C>T	ENSP00000497366.1:p.Pro253=
ENST00000368786.5:c.678C>T	ENSP00000357775.1:p.Pro226=
ENST00000368797.8:c.678C>T	ENSP00000357787.4:p.Pro226=
ENST00000464267.1:n.775C>T
ENST00000465577.5:n.320C>T
ENST00000470483.1:n.366C>T
ENST00000484541.5:n.451C>T
ENST00000616800.4:c.161-3728C>T
ENST00000622016.4:c.241-3149C>T	ENSP00000483041.1:n.241-3149C>T
NM_000375.2:c.678C>T	NP_000366.1:p.Pro226=
XM_005270137.2:c.759C>T	XP_005270194.1:p.Pro253=
XM_005270138.2:c.678C>T	XP_005270195.1:p.Pro226=
XM_005270139.2:c.661-3149C>T	XP_005270196.1:n.661-3149C>T
XM_006717960.2:c.759C>T	XP_006718023.1:p.Pro253=
XM_011540127.1:c.661-3728C>T	XP_011538429.1:n.661-3728C>T
XR_246103.2:n.858C>T
XR_945810.1:n.1088C>T
NM_000375.3:c.678C>T MANE Select	NP_000366.1:p.Pro226=
NM_001324036.1:c.759C>T	NP_001310965.1:p.Pro253=
NM_001324037.1:c.678C>T	NP_001310966.1:p.Pro226=
NM_001324038.1:c.597C>T	NP_001310967.1:p.Pro199=
NR_136675.1:n.763C>T
NR_136676.1:n.1190C>T
NR_136677.1:n.927-3149C>T
NR_136678.1:n.674C>T
XM_011540127.2:c.661-3728C>T	XP_011538429.1:n.661-3728C>T
XM_017016611.2:c.759C>T	XP_016872100.2:p.Pro253=
XM_017016612.2:c.661-3149C>T	XP_016872101.1:n.661-3149C>T
XM_024448154.1:c.678C>T	XP_024303922.1:p.Pro226=
XR_002957010.1:n.2017C>T
XR_246103.3:n.873C>T
XR_945810.2:n.1103C>T
NM_001324036.2:c.759C>T	NP_001310965.1:p.Pro253=
NM_001324037.2:c.678C>T	NP_001310966.1:p.Pro226=
NM_001324038.2:c.597C>T	NP_001310967.1:p.Pro199=
NR_136675.2:n.753C>T
NR_136676.2:n.1180C>T
NR_136678.2:n.664C>T
NR_136677.2:n.917-3149C>T