Canonical Allele Identifier: CA340118249

Gene: UROD

Linked Data

• dbSNP Id: rs755082661
• gnomAD v3: 1-45013955-T-A
• gnomAD v4: 1-45013955-T-A
• MyVariant Identifiers: chr1:g.45479627T>A (hg19) ; chr1:g.45013955T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013955T>A , CM000663.2:g.45013955T>A	GRCh38
NC_000001.10:g.45479627T>A , CM000663.1:g.45479627T>A	GRCh37
NC_000001.9:g.45252214T>A	NCBI36
NG_007122.2:g.6798T>A
NG_033058.1:g.2401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.521T>A MANE Select	ENSP00000246337.4:p.Met174Lys
ENST00000434478.6:c.575T>A	ENSP00000404489.2:p.Met192Lys
ENST00000491773.6:c.416T>A	ENSP00000498551.1:p.Met139Lys
ENST00000636293.1:c.521T>A	ENSP00000490710.1:p.Met174Lys
ENST00000636836.1:c.521T>A	ENSP00000490594.1:p.Met174Lys
ENST00000651476.1:c.416T>A	ENSP00000498668.1:p.Met139Lys
ENST00000652165.1:c.416T>A	ENSP00000498295.1:p.Met139Lys
ENST00000652287.1:c.458T>A	ENSP00000498413.1:p.Met153Lys
ENST00000652514.1:c.482T>A	ENSP00000498635.1:n.482T>A
ENST00000246337.8:c.521T>A	ENSP00000246337.4:p.Met174Lys
ENST00000428106.1:c.454+164T>A
ENST00000434478.5:c.458T>A	ENSP00000404489.1:p.Met153Lys
ENST00000460334.5:n.548T>A
ENST00000460906.5:n.655T>A
ENST00000462688.5:n.648T>A
ENST00000469548.5:n.717T>A
ENST00000473012.1:n.568T>A
ENST00000478467.5:n.524T>A
ENST00000486699.5:n.641T>A
ENST00000490385.5:n.595T>A
ENST00000491300.5:n.640T>A
ENST00000491773.5:n.675T>A
ENST00000494399.5:n.661T>A
ENST00000496439.1:n.617T>A
NM_000374.4:c.521T>A	NP_000365.3:p.Met174Lys
NR_036510.1:n.704T>A
XM_005271169.1:c.305T>A	XP_005271226.1:p.Met102Lys
XM_005271170.1:c.305T>A	XP_005271227.1:p.Met102Lys
XM_011542080.1:c.458T>A	XP_011540382.1:p.Met153Lys
XM_011542081.1:c.353T>A	XP_011540383.1:p.Met118Lys
NM_000374.5:c.521T>A MANE Select	NP_000365.3:p.Met174Lys
NR_158184.1:n.602T>A
NR_158185.1:n.552T>A
NR_036510.2:n.583T>A