Canonical Allele Identifier: CA340120862

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481072A>C (hg19) ; chr1:g.45015400A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015400A>C , CM000663.2:g.45015400A>C	GRCh38
NC_000001.10:g.45481072A>C , CM000663.1:g.45481072A>C	GRCh37
NC_000001.9:g.45253659A>C	NCBI36
NG_007122.2:g.8243A>C
NG_033058.1:g.956T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1006A>C MANE Select	ENSP00000246337.4:p.Asn336His
ENST00000491773.6:c.763A>C	ENSP00000498551.1:p.Asn255His
ENST00000636293.1:c.868A>C	ENSP00000490710.1:p.Asn290His
ENST00000636836.1:c.*42A>C	ENSP00000490594.1:n.*42A>C
ENST00000651476.1:c.901A>C	ENSP00000498668.1:p.Asn301His
ENST00000652165.1:c.763A>C	ENSP00000498295.1:p.Asn255His
ENST00000652287.1:c.943A>C	ENSP00000498413.1:p.Asn315His
ENST00000652514.1:c.967A>C	ENSP00000498635.1:n.967A>C
ENST00000246337.8:c.1006A>C	ENSP00000246337.4:p.Asn336His
ENST00000465678.1:n.751A>C
ENST00000472254.1:n.759A>C
ENST00000494399.5:n.1673A>C
NM_000374.4:c.1006A>C	NP_000365.3:p.Asn336His
NR_036510.1:n.1189A>C
XM_005271169.1:c.790A>C	XP_005271226.1:p.Asn264His
XM_005271170.1:c.790A>C	XP_005271227.1:p.Asn264His
XM_011542080.1:c.943A>C	XP_011540382.1:p.Asn315His
XM_011542081.1:c.838A>C	XP_011540383.1:p.Asn280His
NM_000374.5:c.1006A>C MANE Select	NP_000365.3:p.Asn336His
NR_158184.1:n.1087A>C
NR_158185.1:n.1037A>C
NR_036510.2:n.1068A>C