Canonical Allele Identifier: CA340120826

Gene: UROD

Linked Data

• gnomAD v4: 1-45015389-G-T
• MyVariant Identifiers: chr1:g.45481061G>T (hg19) ; chr1:g.45015389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015389G>T , CM000663.2:g.45015389G>T	GRCh38
NC_000001.10:g.45481061G>T , CM000663.1:g.45481061G>T	GRCh37
NC_000001.9:g.45253648G>T	NCBI36
NG_007122.2:g.8232G>T
NG_033058.1:g.967C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.995G>T MANE Select	ENSP00000246337.4:p.Arg332Leu
ENST00000491773.6:c.752G>T	ENSP00000498551.1:p.Arg251Leu
ENST00000636293.1:c.857G>T	ENSP00000490710.1:p.Arg286Leu
ENST00000636836.1:c.*31G>T	ENSP00000490594.1:n.*31G>T
ENST00000651476.1:c.890G>T	ENSP00000498668.1:p.Arg297Leu
ENST00000652165.1:c.752G>T	ENSP00000498295.1:p.Arg251Leu
ENST00000652287.1:c.932G>T	ENSP00000498413.1:p.Arg311Leu
ENST00000652514.1:c.956G>T	ENSP00000498635.1:n.956G>T
ENST00000246337.8:c.995G>T	ENSP00000246337.4:p.Arg332Leu
ENST00000465678.1:n.740G>T
ENST00000466193.1:n.521G>T
ENST00000472254.1:n.748G>T
ENST00000494399.5:n.1662G>T
NM_000374.4:c.995G>T	NP_000365.3:p.Arg332Leu
NR_036510.1:n.1178G>T
XM_005271169.1:c.779G>T	XP_005271226.1:p.Arg260Leu
XM_005271170.1:c.779G>T	XP_005271227.1:p.Arg260Leu
XM_011542080.1:c.932G>T	XP_011540382.1:p.Arg311Leu
XM_011542081.1:c.827G>T	XP_011540383.1:p.Arg276Leu
NM_000374.5:c.995G>T MANE Select	NP_000365.3:p.Arg332Leu
NR_158184.1:n.1076G>T
NR_158185.1:n.1026G>T
NR_036510.2:n.1057G>T