Canonical Allele Identifier: CA340120854

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481069G>C (hg19) ; chr1:g.45015397G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1003G>C MANE Select	ENSP00000246337.4:p.Ala335Pro
ENST00000491773.6:c.760G>C	ENSP00000498551.1:p.Ala254Pro
ENST00000636293.1:c.865G>C	ENSP00000490710.1:p.Ala289Pro
ENST00000636836.1:c.*39G>C	ENSP00000490594.1:n.*39G>C
ENST00000651476.1:c.898G>C	ENSP00000498668.1:p.Ala300Pro
ENST00000652165.1:c.760G>C	ENSP00000498295.1:p.Ala254Pro
ENST00000652287.1:c.940G>C	ENSP00000498413.1:p.Ala314Pro
ENST00000652514.1:c.964G>C	ENSP00000498635.1:n.964G>C
ENST00000246337.8:c.1003G>C	ENSP00000246337.4:p.Ala335Pro
ENST00000465678.1:n.748G>C
ENST00000472254.1:n.756G>C
ENST00000494399.5:n.1670G>C
NM_000374.4:c.1003G>C	NP_000365.3:p.Ala335Pro
NR_036510.1:n.1186G>C
XM_005271169.1:c.787G>C	XP_005271226.1:p.Ala263Pro
XM_005271170.1:c.787G>C	XP_005271227.1:p.Ala263Pro
XM_011542080.1:c.940G>C	XP_011540382.1:p.Ala314Pro
XM_011542081.1:c.835G>C	XP_011540383.1:p.Ala279Pro
NM_000374.5:c.1003G>C MANE Select	NP_000365.3:p.Ala335Pro
NR_158184.1:n.1084G>C
NR_158185.1:n.1034G>C
NR_036510.2:n.1065G>C