Canonical Allele Identifier: CA340118242

Gene: UROD

Linked Data

• gnomAD v4: 1-45013951-A-G
• MyVariant Identifiers: chr1:g.45479623A>G (hg19) ; chr1:g.45013951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013951A>G , CM000663.2:g.45013951A>G	GRCh38
NC_000001.10:g.45479623A>G , CM000663.1:g.45479623A>G	GRCh37
NC_000001.9:g.45252210A>G	NCBI36
NG_007122.2:g.6794A>G
NG_033058.1:g.2405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.517A>G MANE Select	ENSP00000246337.4:p.Thr173Ala
ENST00000434478.6:c.571A>G	ENSP00000404489.2:p.Thr191Ala
ENST00000491773.6:c.412A>G	ENSP00000498551.1:p.Thr138Ala
ENST00000636293.1:c.517A>G	ENSP00000490710.1:p.Thr173Ala
ENST00000636836.1:c.517A>G	ENSP00000490594.1:p.Thr173Ala
ENST00000651476.1:c.412A>G	ENSP00000498668.1:p.Thr138Ala
ENST00000652165.1:c.412A>G	ENSP00000498295.1:p.Thr138Ala
ENST00000652287.1:c.454A>G	ENSP00000498413.1:p.Thr152Ala
ENST00000652514.1:c.478A>G	ENSP00000498635.1:n.478A>G
ENST00000246337.8:c.517A>G	ENSP00000246337.4:p.Thr173Ala
ENST00000428106.1:c.454+160A>G
ENST00000434478.5:c.454A>G	ENSP00000404489.1:p.Thr152Ala
ENST00000460334.5:n.544A>G
ENST00000460906.5:n.651A>G
ENST00000462688.5:n.644A>G
ENST00000469548.5:n.713A>G
ENST00000473012.1:n.564A>G
ENST00000478467.5:n.520A>G
ENST00000486699.5:n.637A>G
ENST00000490385.5:n.591A>G
ENST00000491300.5:n.636A>G
ENST00000491773.5:n.671A>G
ENST00000494399.5:n.657A>G
ENST00000496439.1:n.613A>G
NM_000374.4:c.517A>G	NP_000365.3:p.Thr173Ala
NR_036510.1:n.700A>G
XM_005271169.1:c.301A>G	XP_005271226.1:p.Thr101Ala
XM_005271170.1:c.301A>G	XP_005271227.1:p.Thr101Ala
XM_011542080.1:c.454A>G	XP_011540382.1:p.Thr152Ala
XM_011542081.1:c.349A>G	XP_011540383.1:p.Thr117Ala
NM_000374.5:c.517A>G MANE Select	NP_000365.3:p.Thr173Ala
NR_158184.1:n.598A>G
NR_158185.1:n.548A>G
NR_036510.2:n.579A>G