Canonical Allele Identifier: CA251374
Gene: UROD HGNC NCBI

Linked Data

ClinVar Variation Id: 70
dbSNP Id: rs121918060

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45013187C>T , CM000663.2:g.45013187C>T GRCh38
NC_000001.10:g.45478859C>T , CM000663.1:g.45478859C>T GRCh37
NC_000001.9:g.45251446C>T NCBI36
NG_007122.2:g.6030C>T
NG_033058.1:g.3169G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000246337.9:c.185C>T MANE Select ENSP00000246337.4:p.Pro62Leu
ENST00000434478.6:c.185C>T ENSP00000404489.2:p.Pro62Leu
ENST00000491773.6:c.80C>T ENSP00000498551.1:p.Pro27Leu
ENST00000636293.1:c.185C>T ENSP00000490710.1:p.Pro62Leu
ENST00000636836.1:c.185C>T ENSP00000490594.1:p.Pro62Leu
ENST00000650713.1:c.80C>T ENSP00000499014.1:p.Pro27Leu
ENST00000651476.1:c.80C>T ENSP00000498668.1:p.Pro27Leu
ENST00000652165.1:c.80C>T ENSP00000498295.1:p.Pro27Leu
ENST00000652287.1:c.185C>T ENSP00000498413.1:p.Pro62Leu
ENST00000652514.1:c.137C>T ENSP00000498635.1:p.Pro46Leu
ENST00000246337.8:c.185C>T ENSP00000246337.4:p.Pro62Leu
ENST00000428106.1:c.165C>T
ENST00000434478.5:c.185C>T ENSP00000404489.1:p.Pro62Leu
ENST00000460334.5:n.193C>T
ENST00000460906.5:n.183C>T
ENST00000461035.5:n.289C>T
ENST00000462688.5:n.236C>T
ENST00000463092.5:n.266C>T
ENST00000469548.5:n.381C>T
ENST00000473012.1:n.137C>T
ENST00000478467.5:n.217-105C>T
ENST00000486699.5:n.286C>T
ENST00000490385.5:n.183C>T
ENST00000491300.5:n.285C>T
ENST00000491773.5:n.339C>T
ENST00000494399.5:n.249C>T
ENST00000496439.1:n.164C>T
NM_000374.4:c.185C>T NP_000365.3:p.Pro62Leu
NR_036510.1:n.368C>T
XM_005271169.1:c.-51C>T XP_005271226.1:n.-51C>T
XM_005271170.1:c.-51C>T XP_005271227.1:n.-51C>T
XM_011542080.1:c.185C>T XP_011540382.1:p.Pro62Leu
XM_011542081.1:c.80C>T XP_011540383.1:p.Pro27Leu
NM_000374.5:c.185C>T MANE Select NP_000365.3:p.Pro62Leu
NR_158184.1:n.247C>T
NR_158185.1:n.197C>T
NR_036510.2:n.247C>T