Canonical Allele Identifier: CA340118248

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45479626A>T (hg19) ; chr1:g.45013954A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013954A>T , CM000663.2:g.45013954A>T	GRCh38
NC_000001.10:g.45479626A>T , CM000663.1:g.45479626A>T	GRCh37
NC_000001.9:g.45252213A>T	NCBI36
NG_007122.2:g.6797A>T
NG_033058.1:g.2402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.520A>T MANE Select	ENSP00000246337.4:p.Met174Leu
ENST00000434478.6:c.574A>T	ENSP00000404489.2:p.Met192Leu
ENST00000491773.6:c.415A>T	ENSP00000498551.1:p.Met139Leu
ENST00000636293.1:c.520A>T	ENSP00000490710.1:p.Met174Leu
ENST00000636836.1:c.520A>T	ENSP00000490594.1:p.Met174Leu
ENST00000651476.1:c.415A>T	ENSP00000498668.1:p.Met139Leu
ENST00000652165.1:c.415A>T	ENSP00000498295.1:p.Met139Leu
ENST00000652287.1:c.457A>T	ENSP00000498413.1:p.Met153Leu
ENST00000652514.1:c.481A>T	ENSP00000498635.1:n.481A>T
ENST00000246337.8:c.520A>T	ENSP00000246337.4:p.Met174Leu
ENST00000428106.1:c.454+163A>T
ENST00000434478.5:c.457A>T	ENSP00000404489.1:p.Met153Leu
ENST00000460334.5:n.547A>T
ENST00000460906.5:n.654A>T
ENST00000462688.5:n.647A>T
ENST00000469548.5:n.716A>T
ENST00000473012.1:n.567A>T
ENST00000478467.5:n.523A>T
ENST00000486699.5:n.640A>T
ENST00000490385.5:n.594A>T
ENST00000491300.5:n.639A>T
ENST00000491773.5:n.674A>T
ENST00000494399.5:n.660A>T
ENST00000496439.1:n.616A>T
NM_000374.4:c.520A>T	NP_000365.3:p.Met174Leu
NR_036510.1:n.703A>T
XM_005271169.1:c.304A>T	XP_005271226.1:p.Met102Leu
XM_005271170.1:c.304A>T	XP_005271227.1:p.Met102Leu
XM_011542080.1:c.457A>T	XP_011540382.1:p.Met153Leu
XM_011542081.1:c.352A>T	XP_011540383.1:p.Met118Leu
NM_000374.5:c.520A>T MANE Select	NP_000365.3:p.Met174Leu
NR_158184.1:n.601A>T
NR_158185.1:n.551A>T
NR_036510.2:n.582A>T