Canonical Allele Identifier: CA1141580778

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45014976C= , CM000663.2:g.45014976C=	GRCh38
NC_000001.10:g.45480648C= , CM000663.1:g.45480648C=	GRCh37
NC_000001.9:g.45253235C=	NCBI36
NG_007122.2:g.7819C=
NG_033058.1:g.1380G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.912C= MANE Select	ENSP00000246337.4:p.Asn304=
ENST00000491773.6:c.669C=	ENSP00000498551.1:p.Asn223=
ENST00000636293.1:c.774C=	ENSP00000490710.1:p.Asn258=
ENST00000636836.1:c.875+140C=	ENSP00000490594.1:n.875+140C=
ENST00000651476.1:c.807C=	ENSP00000498668.1:p.Asn269=
ENST00000652165.1:c.669C=	ENSP00000498295.1:p.Asn223=
ENST00000652287.1:c.849C=	ENSP00000498413.1:p.Asn283=
ENST00000652514.1:c.873C=	ENSP00000498635.1:n.873C=
ENST00000246337.8:c.912C=	ENSP00000246337.4:p.Asn304=
ENST00000465678.1:n.327C=
ENST00000466193.1:n.438C=
ENST00000472254.1:n.665C=
ENST00000494399.5:n.1579C=
NM_000374.4:c.912C=	NP_000365.3:p.Asn304=
NR_036510.1:n.1095C=
XM_005271169.1:c.696C=	XP_005271226.1:p.Asn232=
XM_005271170.1:c.696C=	XP_005271227.1:p.Asn232=
XM_011542080.1:c.849C=	XP_011540382.1:p.Asn283=
XM_011542081.1:c.744C=	XP_011540383.1:p.Asn248=
NM_000374.5:c.912C= MANE Select	NP_000365.3:p.Asn304=
NR_158184.1:n.993C=
NR_158185.1:n.943C=
NR_036510.2:n.974C=