Canonical Allele Identifier: CA340120855

Gene: UROD

Linked Data

• gnomAD v4: 1-45015397-G-T
• MyVariant Identifiers: chr1:g.45481069G>T (hg19) ; chr1:g.45015397G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015397G>T , CM000663.2:g.45015397G>T	GRCh38
NC_000001.10:g.45481069G>T , CM000663.1:g.45481069G>T	GRCh37
NC_000001.9:g.45253656G>T	NCBI36
NG_007122.2:g.8240G>T
NG_033058.1:g.959C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1003G>T MANE Select	ENSP00000246337.4:p.Ala335Ser
ENST00000491773.6:c.760G>T	ENSP00000498551.1:p.Ala254Ser
ENST00000636293.1:c.865G>T	ENSP00000490710.1:p.Ala289Ser
ENST00000636836.1:c.*39G>T	ENSP00000490594.1:n.*39G>T
ENST00000651476.1:c.898G>T	ENSP00000498668.1:p.Ala300Ser
ENST00000652165.1:c.760G>T	ENSP00000498295.1:p.Ala254Ser
ENST00000652287.1:c.940G>T	ENSP00000498413.1:p.Ala314Ser
ENST00000652514.1:c.964G>T	ENSP00000498635.1:n.964G>T
ENST00000246337.8:c.1003G>T	ENSP00000246337.4:p.Ala335Ser
ENST00000465678.1:n.748G>T
ENST00000472254.1:n.756G>T
ENST00000494399.5:n.1670G>T
NM_000374.4:c.1003G>T	NP_000365.3:p.Ala335Ser
NR_036510.1:n.1186G>T
XM_005271169.1:c.787G>T	XP_005271226.1:p.Ala263Ser
XM_005271170.1:c.787G>T	XP_005271227.1:p.Ala263Ser
XM_011542080.1:c.940G>T	XP_011540382.1:p.Ala314Ser
XM_011542081.1:c.835G>T	XP_011540383.1:p.Ala279Ser
NM_000374.5:c.1003G>T MANE Select	NP_000365.3:p.Ala335Ser
NR_158184.1:n.1084G>T
NR_158185.1:n.1034G>T
NR_036510.2:n.1065G>T