Canonical Allele Identifier: CA1141580772

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013187C= , CM000663.2:g.45013187C=	GRCh38
NC_000001.10:g.45478859C= , CM000663.1:g.45478859C=	GRCh37
NC_000001.9:g.45251446C=	NCBI36
NG_007122.2:g.6030C=
NG_033058.1:g.3169G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.185C= MANE Select	ENSP00000246337.4:p.Pro62=
ENST00000434478.6:c.185C=	ENSP00000404489.2:p.Pro62=
ENST00000491773.6:c.80C=	ENSP00000498551.1:p.Pro27=
ENST00000636293.1:c.185C=	ENSP00000490710.1:p.Pro62=
ENST00000636836.1:c.185C=	ENSP00000490594.1:p.Pro62=
ENST00000650713.1:c.80C=	ENSP00000499014.1:p.Pro27=
ENST00000651476.1:c.80C=	ENSP00000498668.1:p.Pro27=
ENST00000652165.1:c.80C=	ENSP00000498295.1:p.Pro27=
ENST00000652287.1:c.185C=	ENSP00000498413.1:p.Pro62=
ENST00000652514.1:c.137C=	ENSP00000498635.1:p.Pro46=
ENST00000246337.8:c.185C=	ENSP00000246337.4:p.Pro62=
ENST00000428106.1:c.165C=
ENST00000434478.5:c.185C=	ENSP00000404489.1:p.Pro62=
ENST00000460334.5:n.193C=
ENST00000460906.5:n.183C=
ENST00000461035.5:n.289C=
ENST00000462688.5:n.236C=
ENST00000463092.5:n.266C=
ENST00000469548.5:n.381C=
ENST00000473012.1:n.137C=
ENST00000478467.5:n.217-105C=
ENST00000486699.5:n.286C=
ENST00000490385.5:n.183C=
ENST00000491300.5:n.285C=
ENST00000491773.5:n.339C=
ENST00000494399.5:n.249C=
ENST00000496439.1:n.164C=
NM_000374.4:c.185C=	NP_000365.3:p.Pro62=
NR_036510.1:n.368C=
XM_005271169.1:c.-51C=	XP_005271226.1:n.-51C=
XM_005271170.1:c.-51C=	XP_005271227.1:n.-51C=
XM_011542080.1:c.185C=	XP_011540382.1:p.Pro62=
XM_011542081.1:c.80C=	XP_011540383.1:p.Pro27=
NM_000374.5:c.185C= MANE Select	NP_000365.3:p.Pro62=
NR_158184.1:n.247C=
NR_158185.1:n.197C=
NR_036510.2:n.247C=