Canonical Allele Identifier: CA2473585397

Gene: UROD

Linked Data

• dbSNP Id: rs1644826145

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013842_45013843insT , CM000663.2:g.45013842_45013843insT	GRCh38
NC_000001.10:g.45479514_45479515insT , CM000663.1:g.45479514_45479515insT	GRCh37
NC_000001.9:g.45252101_45252102insT	NCBI36
NG_007122.2:g.6685_6686insT
NG_033058.1:g.2513_2514insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.474+51_474+52insT MANE Select	ENSP00000246337.4:n.474+51_474+52insT
ENST00000434478.6:c.528+51_528+52insT	ENSP00000404489.2:n.528+51_528+52insT
ENST00000491773.6:c.369+51_369+52insT	ENSP00000498551.1:n.369+51_369+52insT
ENST00000636293.1:c.474+51_474+52insT	ENSP00000490710.1:n.474+51_474+52insT
ENST00000636836.1:c.474+51_474+52insT	ENSP00000490594.1:n.474+51_474+52insT
ENST00000651476.1:c.369+51_369+52insT	ENSP00000498668.1:n.369+51_369+52insT
ENST00000652165.1:c.369+51_369+52insT	ENSP00000498295.1:n.369+51_369+52insT
ENST00000652287.1:c.411+51_411+52insT	ENSP00000498413.1:n.411+51_411+52insT
ENST00000652514.1:c.435+51_435+52insT	ENSP00000498635.1:n.435+51_435+52insT
ENST00000246337.8:c.474+51_474+52insT	ENSP00000246337.4:n.474+51_474+52insT
ENST00000428106.1:c.454+51_454+52insT
ENST00000434478.5:c.411+51_411+52insT	ENSP00000404489.1:n.411+51_411+52insT
ENST00000460334.5:n.501+51_501+52insT
ENST00000460906.5:n.542_543insT
ENST00000462688.5:n.601+51_601+52insT
ENST00000463092.5:n.921_922insT
ENST00000469548.5:n.670+51_670+52insT
ENST00000473012.1:n.521+51_521+52insT
ENST00000478467.5:n.477+51_477+52insT
ENST00000486699.5:n.594+51_594+52insT
ENST00000490385.5:n.548+51_548+52insT
ENST00000491300.5:n.593+51_593+52insT
ENST00000491773.5:n.628+51_628+52insT
ENST00000494399.5:n.614+51_614+52insT
ENST00000496439.1:n.504_505insT
NM_000374.4:c.474+51_474+52insT	NP_000365.3:n.474+51_474+52insT
NR_036510.1:n.657+51_657+52insT
XM_005271169.1:c.258+51_258+52insT	XP_005271226.1:n.258+51_258+52insT
XM_005271170.1:c.258+51_258+52insT	XP_005271227.1:n.258+51_258+52insT
XM_011542080.1:c.411+51_411+52insT	XP_011540382.1:n.411+51_411+52insT
XM_011542081.1:c.306+51_306+52insT	XP_011540383.1:n.306+51_306+52insT
NM_000374.5:c.474+51_474+52insT MANE Select	NP_000365.3:n.474+51_474+52insT
NR_158184.1:n.555+51_555+52insT
NR_158185.1:n.505+51_505+52insT
NR_036510.2:n.536+51_536+52insT