Canonical Allele Identifier: CA340120858

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481070C>G (hg19) ; chr1:g.45015398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015398C>G , CM000663.2:g.45015398C>G	GRCh38
NC_000001.10:g.45481070C>G , CM000663.1:g.45481070C>G	GRCh37
NC_000001.9:g.45253657C>G	NCBI36
NG_007122.2:g.8241C>G
NG_033058.1:g.958G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1004C>G MANE Select	ENSP00000246337.4:p.Ala335Gly
ENST00000491773.6:c.761C>G	ENSP00000498551.1:p.Ala254Gly
ENST00000636293.1:c.866C>G	ENSP00000490710.1:p.Ala289Gly
ENST00000636836.1:c.*40C>G	ENSP00000490594.1:n.*40C>G
ENST00000651476.1:c.899C>G	ENSP00000498668.1:p.Ala300Gly
ENST00000652165.1:c.761C>G	ENSP00000498295.1:p.Ala254Gly
ENST00000652287.1:c.941C>G	ENSP00000498413.1:p.Ala314Gly
ENST00000652514.1:c.965C>G	ENSP00000498635.1:n.965C>G
ENST00000246337.8:c.1004C>G	ENSP00000246337.4:p.Ala335Gly
ENST00000465678.1:n.749C>G
ENST00000472254.1:n.757C>G
ENST00000494399.5:n.1671C>G
NM_000374.4:c.1004C>G	NP_000365.3:p.Ala335Gly
NR_036510.1:n.1187C>G
XM_005271169.1:c.788C>G	XP_005271226.1:p.Ala263Gly
XM_005271170.1:c.788C>G	XP_005271227.1:p.Ala263Gly
XM_011542080.1:c.941C>G	XP_011540382.1:p.Ala314Gly
XM_011542081.1:c.836C>G	XP_011540383.1:p.Ala279Gly
NM_000374.5:c.1004C>G MANE Select	NP_000365.3:p.Ala335Gly
NR_158184.1:n.1085C>G
NR_158185.1:n.1035C>G
NR_036510.2:n.1066C>G