Canonical Allele Identifier: CA522810268

Gene: UROD

Linked Data

• dbSNP Id: rs1427869692
• gnomAD v2: 1-45480685-G-A
• gnomAD v4: 1-45015013-G-A
• MyVariant Identifiers: chr1:g.45480685G>A (hg19) ; chr1:g.45015013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015013G>A , CM000663.2:g.45015013G>A	GRCh38
NC_000001.10:g.45480685G>A , CM000663.1:g.45480685G>A	GRCh37
NC_000001.9:g.45253272G>A	NCBI36
NG_007122.2:g.7856G>A
NG_033058.1:g.1343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.942+7G>A MANE Select	ENSP00000246337.4:n.942+7G>A
ENST00000491773.6:c.699+7G>A	ENSP00000498551.1:n.699+7G>A
ENST00000636293.1:c.804+7G>A	ENSP00000490710.1:n.804+7G>A
ENST00000636836.1:c.875+177G>A	ENSP00000490594.1:n.875+177G>A
ENST00000651476.1:c.837+7G>A	ENSP00000498668.1:n.837+7G>A
ENST00000652165.1:c.699+7G>A	ENSP00000498295.1:n.699+7G>A
ENST00000652287.1:c.879+7G>A	ENSP00000498413.1:n.879+7G>A
ENST00000652514.1:c.903+7G>A	ENSP00000498635.1:n.903+7G>A
ENST00000246337.8:c.942+7G>A	ENSP00000246337.4:n.942+7G>A
ENST00000465678.1:n.364G>A
ENST00000466193.1:n.468+7G>A
ENST00000472254.1:n.695+7G>A
ENST00000494399.5:n.1609+7G>A
NM_000374.4:c.942+7G>A	NP_000365.3:n.942+7G>A
NR_036510.1:n.1125+7G>A
XM_005271169.1:c.726+7G>A	XP_005271226.1:n.726+7G>A
XM_005271170.1:c.726+7G>A	XP_005271227.1:n.726+7G>A
XM_011542080.1:c.879+7G>A	XP_011540382.1:n.879+7G>A
XM_011542081.1:c.774+7G>A	XP_011540383.1:n.774+7G>A
NM_000374.5:c.942+7G>A MANE Select	NP_000365.3:n.942+7G>A
NR_158184.1:n.1023+7G>A
NR_158185.1:n.973+7G>A
NR_036510.2:n.1004+7G>A