Canonical Allele Identifier: CA825280

Gene: UROD

Linked Data

• dbSNP Id: rs781200856
• ExAC: 1:45479628 G / A
• gnomAD v2: 1-45479628-G-A
• gnomAD v3: 1-45013956-G-A
• gnomAD v4: 1-45013956-G-A
• MyVariant Identifiers: chr1:g.45479628G>A (hg19) ; chr1:g.45013956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013956G>A , CM000663.2:g.45013956G>A	GRCh38
NC_000001.10:g.45479628G>A , CM000663.1:g.45479628G>A	GRCh37
NC_000001.9:g.45252215G>A	NCBI36
NG_007122.2:g.6799G>A
NG_033058.1:g.2400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.522G>A MANE Select	ENSP00000246337.4:p.Met174Ile
ENST00000434478.6:c.576G>A	ENSP00000404489.2:p.Met192Ile
ENST00000491773.6:c.417G>A	ENSP00000498551.1:p.Met139Ile
ENST00000636293.1:c.522G>A	ENSP00000490710.1:p.Met174Ile
ENST00000636836.1:c.522G>A	ENSP00000490594.1:p.Met174Ile
ENST00000651476.1:c.417G>A	ENSP00000498668.1:p.Met139Ile
ENST00000652165.1:c.417G>A	ENSP00000498295.1:p.Met139Ile
ENST00000652287.1:c.459G>A	ENSP00000498413.1:p.Met153Ile
ENST00000652514.1:c.483G>A	ENSP00000498635.1:n.483G>A
ENST00000246337.8:c.522G>A	ENSP00000246337.4:p.Met174Ile
ENST00000428106.1:c.454+165G>A
ENST00000434478.5:c.459G>A	ENSP00000404489.1:p.Met153Ile
ENST00000460334.5:n.549G>A
ENST00000460906.5:n.656G>A
ENST00000462688.5:n.649G>A
ENST00000469548.5:n.718G>A
ENST00000473012.1:n.569G>A
ENST00000478467.5:n.525G>A
ENST00000486699.5:n.642G>A
ENST00000490385.5:n.596G>A
ENST00000491300.5:n.641G>A
ENST00000491773.5:n.676G>A
ENST00000494399.5:n.662G>A
ENST00000496439.1:n.618G>A
NM_000374.4:c.522G>A	NP_000365.3:p.Met174Ile
NR_036510.1:n.705G>A
XM_005271169.1:c.306G>A	XP_005271226.1:p.Met102Ile
XM_005271170.1:c.306G>A	XP_005271227.1:p.Met102Ile
XM_011542080.1:c.459G>A	XP_011540382.1:p.Met153Ile
XM_011542081.1:c.354G>A	XP_011540383.1:p.Met118Ile
NM_000374.5:c.522G>A MANE Select	NP_000365.3:p.Met174Ile
NR_158184.1:n.603G>A
NR_158185.1:n.553G>A
NR_036510.2:n.584G>A