Canonical Allele Identifier: CA340120838

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481065C>A (hg19) ; chr1:g.45015393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015393C>A , CM000663.2:g.45015393C>A	GRCh38
NC_000001.10:g.45481065C>A , CM000663.1:g.45481065C>A	GRCh37
NC_000001.9:g.45253652C>A	NCBI36
NG_007122.2:g.8236C>A
NG_033058.1:g.963G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.999C>A MANE Select	ENSP00000246337.4:p.Tyr333Ter
ENST00000491773.6:c.756C>A	ENSP00000498551.1:p.Tyr252Ter
ENST00000636293.1:c.861C>A	ENSP00000490710.1:p.Tyr287Ter
ENST00000636836.1:c.*35C>A	ENSP00000490594.1:n.*35C>A
ENST00000651476.1:c.894C>A	ENSP00000498668.1:p.Tyr298Ter
ENST00000652165.1:c.756C>A	ENSP00000498295.1:p.Tyr252Ter
ENST00000652287.1:c.936C>A	ENSP00000498413.1:p.Tyr312Ter
ENST00000652514.1:c.960C>A	ENSP00000498635.1:n.960C>A
ENST00000246337.8:c.999C>A	ENSP00000246337.4:p.Tyr333Ter
ENST00000465678.1:n.744C>A
ENST00000472254.1:n.752C>A
ENST00000494399.5:n.1666C>A
NM_000374.4:c.999C>A	NP_000365.3:p.Tyr333Ter
NR_036510.1:n.1182C>A
XM_005271169.1:c.783C>A	XP_005271226.1:p.Tyr261Ter
XM_005271170.1:c.783C>A	XP_005271227.1:p.Tyr261Ter
XM_011542080.1:c.936C>A	XP_011540382.1:p.Tyr312Ter
XM_011542081.1:c.831C>A	XP_011540383.1:p.Tyr277Ter
NM_000374.5:c.999C>A MANE Select	NP_000365.3:p.Tyr333Ter
NR_158184.1:n.1080C>A
NR_158185.1:n.1030C>A
NR_036510.2:n.1061C>A