Canonical Allele Identifier: CA340118219

Gene: UROD

Linked Data

• gnomAD v4: 1-45013940-G-A
• MyVariant Identifiers: chr1:g.45479612G>A (hg19) ; chr1:g.45013940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013940G>A , CM000663.2:g.45013940G>A	GRCh38
NC_000001.10:g.45479612G>A , CM000663.1:g.45479612G>A	GRCh37
NC_000001.9:g.45252199G>A	NCBI36
NG_007122.2:g.6783G>A
NG_033058.1:g.2416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.506G>A MANE Select	ENSP00000246337.4:p.Gly169Asp
ENST00000434478.6:c.560G>A	ENSP00000404489.2:p.Gly187Asp
ENST00000491773.6:c.401G>A	ENSP00000498551.1:p.Gly134Asp
ENST00000636293.1:c.506G>A	ENSP00000490710.1:p.Gly169Asp
ENST00000636836.1:c.506G>A	ENSP00000490594.1:p.Gly169Asp
ENST00000651476.1:c.401G>A	ENSP00000498668.1:p.Gly134Asp
ENST00000652165.1:c.401G>A	ENSP00000498295.1:p.Gly134Asp
ENST00000652287.1:c.443G>A	ENSP00000498413.1:p.Gly148Asp
ENST00000652514.1:c.467G>A	ENSP00000498635.1:n.467G>A
ENST00000246337.8:c.506G>A	ENSP00000246337.4:p.Gly169Asp
ENST00000428106.1:c.454+149G>A
ENST00000434478.5:c.443G>A	ENSP00000404489.1:p.Gly148Asp
ENST00000460334.5:n.533G>A
ENST00000460906.5:n.640G>A
ENST00000462688.5:n.633G>A
ENST00000469548.5:n.702G>A
ENST00000473012.1:n.553G>A
ENST00000478467.5:n.509G>A
ENST00000486699.5:n.626G>A
ENST00000490385.5:n.580G>A
ENST00000491300.5:n.625G>A
ENST00000491773.5:n.660G>A
ENST00000494399.5:n.646G>A
ENST00000496439.1:n.602G>A
NM_000374.4:c.506G>A	NP_000365.3:p.Gly169Asp
NR_036510.1:n.689G>A
XM_005271169.1:c.290G>A	XP_005271226.1:p.Gly97Asp
XM_005271170.1:c.290G>A	XP_005271227.1:p.Gly97Asp
XM_011542080.1:c.443G>A	XP_011540382.1:p.Gly148Asp
XM_011542081.1:c.338G>A	XP_011540383.1:p.Gly113Asp
NM_000374.5:c.506G>A MANE Select	NP_000365.3:p.Gly169Asp
NR_158184.1:n.587G>A
NR_158185.1:n.537G>A
NR_036510.2:n.568G>A