Canonical Allele Identifier: CA340121088

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481121C>T (hg19) ; chr1:g.45015449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015449C>T , CM000663.2:g.45015449C>T	GRCh38
NC_000001.10:g.45481121C>T , CM000663.1:g.45481121C>T	GRCh37
NC_000001.9:g.45253708C>T	NCBI36
NG_007122.2:g.8292C>T
NG_033058.1:g.907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.1055C>T MANE Select	ENSP00000246337.4:p.Ala352Val
ENST00000491773.6:c.812C>T	ENSP00000498551.1:p.Ala271Val
ENST00000636293.1:c.917C>T	ENSP00000490710.1:p.Ala306Val
ENST00000636836.1:c.*91C>T	ENSP00000490594.1:n.*91C>T
ENST00000651476.1:c.950C>T	ENSP00000498668.1:p.Ala317Val
ENST00000652165.1:c.812C>T	ENSP00000498295.1:p.Ala271Val
ENST00000652287.1:c.992C>T	ENSP00000498413.1:p.Ala331Val
ENST00000652514.1:c.1016C>T	ENSP00000498635.1:n.1016C>T
ENST00000246337.8:c.1055C>T	ENSP00000246337.4:p.Ala352Val
ENST00000472254.1:n.808C>T
ENST00000494399.5:n.1722C>T
NM_000374.4:c.1055C>T	NP_000365.3:p.Ala352Val
NR_036510.1:n.1238C>T
XM_005271169.1:c.839C>T	XP_005271226.1:p.Ala280Val
XM_005271170.1:c.839C>T	XP_005271227.1:p.Ala280Val
XM_011542080.1:c.992C>T	XP_011540382.1:p.Ala331Val
XM_011542081.1:c.887C>T	XP_011540383.1:p.Ala296Val
NM_000374.5:c.1055C>T MANE Select	NP_000365.3:p.Ala352Val
NR_158184.1:n.1136C>T
NR_158185.1:n.1086C>T
NR_036510.2:n.1117C>T