Canonical Allele Identifier: CA21797674

Gene: UROD

Linked Data

• dbSNP Id: rs1050801
• MyVariant Identifiers: chr1:g.45481172T>C (hg19) ; chr1:g.45015500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015500T>C , CM000663.2:g.45015500T>C	GRCh38
NC_000001.10:g.45481172T>C , CM000663.1:g.45481172T>C	GRCh37
NC_000001.9:g.45253759T>C	NCBI36
NG_007122.2:g.8343T>C
NG_033058.1:g.856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.*2T>C MANE Select	ENSP00000246337.4:n.*2T>C
ENST00000491773.6:c.*2T>C	ENSP00000498551.1:n.*2T>C
ENST00000636293.1:c.*2T>C	ENSP00000490710.1:n.*2T>C
ENST00000636836.1:c.*142T>C	ENSP00000490594.1:n.*142T>C
ENST00000651476.1:c.*2T>C	ENSP00000498668.1:n.*2T>C
ENST00000652165.1:c.*2T>C	ENSP00000498295.1:n.*2T>C
ENST00000652287.1:c.*2T>C	ENSP00000498413.1:n.*2T>C
ENST00000652514.1:c.1067T>C	ENSP00000498635.1:n.1067T>C
ENST00000246337.8:c.*2T>C	ENSP00000246337.4:n.*2T>C
ENST00000472254.1:n.859T>C
ENST00000494399.5:n.1773T>C
NM_000374.4:c.*2T>C	NP_000365.3:n.*2T>C
NR_036510.1:n.1289T>C
XM_005271169.1:c.*2T>C	XP_005271226.1:n.*2T>C
XM_005271170.1:c.*2T>C	XP_005271227.1:n.*2T>C
XM_011542080.1:c.*2T>C	XP_011540382.1:n.*2T>C
XM_011542081.1:c.*2T>C	XP_011540383.1:n.*2T>C
NM_000374.5:c.*2T>C MANE Select	NP_000365.3:n.*2T>C
NR_158184.1:n.1187T>C
NR_158185.1:n.1137T>C
NR_036510.2:n.1168T>C