Canonical Allele Identifier: CA825279

Gene: UROD

Linked Data

• dbSNP Id: rs755082661
• ExAC: 1:45479627 T / C
• gnomAD v2: 1-45479627-T-C
• gnomAD v4: 1-45013955-T-C
• MyVariant Identifiers: chr1:g.45479627T>C (hg19) ; chr1:g.45013955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013955T>C , CM000663.2:g.45013955T>C	GRCh38
NC_000001.10:g.45479627T>C , CM000663.1:g.45479627T>C	GRCh37
NC_000001.9:g.45252214T>C	NCBI36
NG_007122.2:g.6798T>C
NG_033058.1:g.2401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.521T>C MANE Select	ENSP00000246337.4:p.Met174Thr
ENST00000434478.6:c.575T>C	ENSP00000404489.2:p.Met192Thr
ENST00000491773.6:c.416T>C	ENSP00000498551.1:p.Met139Thr
ENST00000636293.1:c.521T>C	ENSP00000490710.1:p.Met174Thr
ENST00000636836.1:c.521T>C	ENSP00000490594.1:p.Met174Thr
ENST00000651476.1:c.416T>C	ENSP00000498668.1:p.Met139Thr
ENST00000652165.1:c.416T>C	ENSP00000498295.1:p.Met139Thr
ENST00000652287.1:c.458T>C	ENSP00000498413.1:p.Met153Thr
ENST00000652514.1:c.482T>C	ENSP00000498635.1:n.482T>C
ENST00000246337.8:c.521T>C	ENSP00000246337.4:p.Met174Thr
ENST00000428106.1:c.454+164T>C
ENST00000434478.5:c.458T>C	ENSP00000404489.1:p.Met153Thr
ENST00000460334.5:n.548T>C
ENST00000460906.5:n.655T>C
ENST00000462688.5:n.648T>C
ENST00000469548.5:n.717T>C
ENST00000473012.1:n.568T>C
ENST00000478467.5:n.524T>C
ENST00000486699.5:n.641T>C
ENST00000490385.5:n.595T>C
ENST00000491300.5:n.640T>C
ENST00000491773.5:n.675T>C
ENST00000494399.5:n.661T>C
ENST00000496439.1:n.617T>C
NM_000374.4:c.521T>C	NP_000365.3:p.Met174Thr
NR_036510.1:n.704T>C
XM_005271169.1:c.305T>C	XP_005271226.1:p.Met102Thr
XM_005271170.1:c.305T>C	XP_005271227.1:p.Met102Thr
XM_011542080.1:c.458T>C	XP_011540382.1:p.Met153Thr
XM_011542081.1:c.353T>C	XP_011540383.1:p.Met118Thr
NM_000374.5:c.521T>C MANE Select	NP_000365.3:p.Met174Thr
NR_158184.1:n.602T>C
NR_158185.1:n.552T>C
NR_036510.2:n.583T>C