Canonical Allele Identifier: CA378685640

Gene: UROS

Linked Data

• MyVariant Identifiers: chr10:g.127477487C>G (hg19) ; chr10:g.125788918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788918C>G , CM000672.2:g.125788918C>G	GRCh38
NC_000010.10:g.127477487C>G , CM000672.1:g.127477487C>G	GRCh37
NC_000010.9:g.127467477C>G	NCBI36
NG_011557.1:g.39351G>C
NG_011557.2:g.39351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.748G>C	ENSP00000518871.1:p.Ala250Pro
ENST00000368797.10:c.748G>C MANE Select	ENSP00000357787.4:p.Ala250Pro
ENST00000465577.6:c.768G>C
ENST00000648427.1:c.*746G>C	ENSP00000497909.1:n.*746G>C
ENST00000649536.1:c.748G>C	ENSP00000497817.1:p.Ala250Pro
ENST00000650185.1:c.898G>C
ENST00000650472.1:n.3134G>C
ENST00000650524.1:c.661G>C	ENSP00000498108.1:n.661G>C
ENST00000650587.1:c.829G>C	ENSP00000497366.1:p.Ala277Pro
ENST00000368786.5:c.748G>C	ENSP00000357775.1:p.Ala250Pro
ENST00000368797.8:c.748G>C	ENSP00000357787.4:p.Ala250Pro
ENST00000464267.1:n.845G>C
ENST00000465577.5:n.390G>C
ENST00000470483.1:n.436G>C
ENST00000484541.5:n.521G>C
ENST00000616800.4:c.161-3658G>C
ENST00000622016.4:c.241-3079G>C	ENSP00000483041.1:n.241-3079G>C
NM_000375.2:c.748G>C	NP_000366.1:p.Ala250Pro
XM_005270137.2:c.829G>C	XP_005270194.1:p.Ala277Pro
XM_005270138.2:c.748G>C	XP_005270195.1:p.Ala250Pro
XM_005270139.2:c.661-3079G>C	XP_005270196.1:n.661-3079G>C
XM_006717960.2:c.829G>C	XP_006718023.1:p.Ala277Pro
XM_011540127.1:c.661-3658G>C	XP_011538429.1:n.661-3658G>C
XR_246103.2:n.928G>C
XR_945810.1:n.1158G>C
NM_000375.3:c.748G>C MANE Select	NP_000366.1:p.Ala250Pro
NM_001324036.1:c.829G>C	NP_001310965.1:p.Ala277Pro
NM_001324037.1:c.748G>C	NP_001310966.1:p.Ala250Pro
NM_001324038.1:c.667G>C	NP_001310967.1:p.Ala223Pro
NR_136675.1:n.833G>C
NR_136676.1:n.1260G>C
NR_136677.1:n.927-3079G>C
NR_136678.1:n.744G>C
XM_011540127.2:c.661-3658G>C	XP_011538429.1:n.661-3658G>C
XM_017016611.2:c.829G>C	XP_016872100.2:p.Ala277Pro
XM_017016612.2:c.661-3079G>C	XP_016872101.1:n.661-3079G>C
XM_024448154.1:c.748G>C	XP_024303922.1:p.Ala250Pro
XR_002957010.1:n.2087G>C
XR_246103.3:n.943G>C
XR_945810.2:n.1173G>C
NM_001324036.2:c.829G>C	NP_001310965.1:p.Ala277Pro
NM_001324037.2:c.748G>C	NP_001310966.1:p.Ala250Pro
NM_001324038.2:c.667G>C	NP_001310967.1:p.Ala223Pro
NR_136675.2:n.823G>C
NR_136676.2:n.1250G>C
NR_136678.2:n.734G>C
NR_136677.2:n.917-3079G>C