Canonical Allele Identifier: CA417698712

Gene: UROD

Linked Data

• dbSNP Id: rs1644843545
• gnomAD v4: 1-45015393-C-T
• MyVariant Identifiers: chr1:g.45481065C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.999C>T MANE Select	ENSP00000246337.4:p.Tyr333=
ENST00000491773.6:c.756C>T	ENSP00000498551.1:p.Tyr252=
ENST00000636293.1:c.861C>T	ENSP00000490710.1:p.Tyr287=
ENST00000636836.1:c.*35C>T	ENSP00000490594.1:n.*35C>T
ENST00000651476.1:c.894C>T	ENSP00000498668.1:p.Tyr298=
ENST00000652165.1:c.756C>T	ENSP00000498295.1:p.Tyr252=
ENST00000652287.1:c.936C>T	ENSP00000498413.1:p.Tyr312=
ENST00000652514.1:c.960C>T	ENSP00000498635.1:n.960C>T
ENST00000246337.8:c.999C>T	ENSP00000246337.4:p.Tyr333=
ENST00000465678.1:n.744C>T
ENST00000472254.1:n.752C>T
ENST00000494399.5:n.1666C>T
NM_000374.4:c.999C>T	NP_000365.3:p.Tyr333=
NR_036510.1:n.1182C>T
XM_005271169.1:c.783C>T	XP_005271226.1:p.Tyr261=
XM_005271170.1:c.783C>T	XP_005271227.1:p.Tyr261=
XM_011542080.1:c.936C>T	XP_011540382.1:p.Tyr312=
XM_011542081.1:c.831C>T	XP_011540383.1:p.Tyr277=
NM_000374.5:c.999C>T MANE Select	NP_000365.3:p.Tyr333=
NR_158184.1:n.1080C>T
NR_158185.1:n.1030C>T
NR_036510.2:n.1061C>T