Canonical Allele Identifier: CA340120864

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481072A>G (hg19) ; chr1:g.45015400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015400A>G , CM000663.2:g.45015400A>G	GRCh38
NC_000001.10:g.45481072A>G , CM000663.1:g.45481072A>G	GRCh37
NC_000001.9:g.45253659A>G	NCBI36
NG_007122.2:g.8243A>G
NG_033058.1:g.956T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1006A>G MANE Select	ENSP00000246337.4:p.Asn336Asp
ENST00000491773.6:c.763A>G	ENSP00000498551.1:p.Asn255Asp
ENST00000636293.1:c.868A>G	ENSP00000490710.1:p.Asn290Asp
ENST00000636836.1:c.*42A>G	ENSP00000490594.1:n.*42A>G
ENST00000651476.1:c.901A>G	ENSP00000498668.1:p.Asn301Asp
ENST00000652165.1:c.763A>G	ENSP00000498295.1:p.Asn255Asp
ENST00000652287.1:c.943A>G	ENSP00000498413.1:p.Asn315Asp
ENST00000652514.1:c.967A>G	ENSP00000498635.1:n.967A>G
ENST00000246337.8:c.1006A>G	ENSP00000246337.4:p.Asn336Asp
ENST00000465678.1:n.751A>G
ENST00000472254.1:n.759A>G
ENST00000494399.5:n.1673A>G
NM_000374.4:c.1006A>G	NP_000365.3:p.Asn336Asp
NR_036510.1:n.1189A>G
XM_005271169.1:c.790A>G	XP_005271226.1:p.Asn264Asp
XM_005271170.1:c.790A>G	XP_005271227.1:p.Asn264Asp
XM_011542080.1:c.943A>G	XP_011540382.1:p.Asn315Asp
XM_011542081.1:c.838A>G	XP_011540383.1:p.Asn280Asp
NM_000374.5:c.1006A>G MANE Select	NP_000365.3:p.Asn336Asp
NR_158184.1:n.1087A>G
NR_158185.1:n.1037A>G
NR_036510.2:n.1068A>G