Canonical Allele Identifier: CA340118494

Gene: UROD

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45014071G>A , CM000663.2:g.45014071G>A	GRCh38
NC_000001.10:g.45479743G>A , CM000663.1:g.45479743G>A	GRCh37
NC_000001.9:g.45252330G>A	NCBI36
NG_007122.2:g.6914G>A
NG_033058.1:g.2285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.636+1G>A MANE Select	ENSP00000246337.4:n.636+1G>A
ENST00000434478.6:c.690+1G>A	ENSP00000404489.2:n.690+1G>A
ENST00000491773.6:c.531+1G>A	ENSP00000498551.1:n.531+1G>A
ENST00000636293.1:c.636+1G>A	ENSP00000490710.1:n.636+1G>A
ENST00000636836.1:c.636+1G>A	ENSP00000490594.1:n.636+1G>A
ENST00000651476.1:c.531+1G>A	ENSP00000498668.1:n.531+1G>A
ENST00000652165.1:c.531+1G>A	ENSP00000498295.1:n.531+1G>A
ENST00000652287.1:c.573+1G>A	ENSP00000498413.1:n.573+1G>A
ENST00000652514.1:c.597+1G>A	ENSP00000498635.1:n.597+1G>A
ENST00000246337.8:c.636+1G>A	ENSP00000246337.4:n.636+1G>A
ENST00000428106.1:c.454+280G>A
ENST00000434478.5:c.573+1G>A	ENSP00000404489.1:n.573+1G>A
ENST00000460906.5:n.771G>A
ENST00000462688.5:n.763+1G>A
ENST00000469548.5:n.832+1G>A
ENST00000472254.1:n.22G>A
ENST00000478467.5:n.639+1G>A
ENST00000486699.5:n.756+1G>A
ENST00000490385.5:n.711G>A
ENST00000491300.5:n.755+1G>A
ENST00000494399.5:n.777G>A
ENST00000496439.1:n.733G>A
NM_000374.4:c.636+1G>A	NP_000365.3:n.636+1G>A
NR_036510.1:n.819+1G>A
XM_005271169.1:c.420+1G>A	XP_005271226.1:n.420+1G>A
XM_005271170.1:c.420+1G>A	XP_005271227.1:n.420+1G>A
XM_011542080.1:c.573+1G>A	XP_011540382.1:n.573+1G>A
XM_011542081.1:c.468+1G>A	XP_011540383.1:n.468+1G>A
NM_000374.5:c.636+1G>A MANE Select	NP_000365.3:n.636+1G>A
NR_158184.1:n.717+1G>A
NR_158185.1:n.667+1G>A
NR_036510.2:n.698+1G>A