Canonical Allele Identifier: CA340120870

Gene: UROD

Linked Data

• MyVariant Identifiers: chr1:g.45481073A>C (hg19) ; chr1:g.45015401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015401A>C , CM000663.2:g.45015401A>C	GRCh38
NC_000001.10:g.45481073A>C , CM000663.1:g.45481073A>C	GRCh37
NC_000001.9:g.45253660A>C	NCBI36
NG_007122.2:g.8244A>C
NG_033058.1:g.955T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1007A>C MANE Select	ENSP00000246337.4:p.Asn336Thr
ENST00000491773.6:c.764A>C	ENSP00000498551.1:p.Asn255Thr
ENST00000636293.1:c.869A>C	ENSP00000490710.1:p.Asn290Thr
ENST00000636836.1:c.*43A>C	ENSP00000490594.1:n.*43A>C
ENST00000651476.1:c.902A>C	ENSP00000498668.1:p.Asn301Thr
ENST00000652165.1:c.764A>C	ENSP00000498295.1:p.Asn255Thr
ENST00000652287.1:c.944A>C	ENSP00000498413.1:p.Asn315Thr
ENST00000652514.1:c.968A>C	ENSP00000498635.1:n.968A>C
ENST00000246337.8:c.1007A>C	ENSP00000246337.4:p.Asn336Thr
ENST00000465678.1:n.752A>C
ENST00000472254.1:n.760A>C
ENST00000494399.5:n.1674A>C
NM_000374.4:c.1007A>C	NP_000365.3:p.Asn336Thr
NR_036510.1:n.1190A>C
XM_005271169.1:c.791A>C	XP_005271226.1:p.Asn264Thr
XM_005271170.1:c.791A>C	XP_005271227.1:p.Asn264Thr
XM_011542080.1:c.944A>C	XP_011540382.1:p.Asn315Thr
XM_011542081.1:c.839A>C	XP_011540383.1:p.Asn280Thr
NM_000374.5:c.1007A>C MANE Select	NP_000365.3:p.Asn336Thr
NR_158184.1:n.1088A>C
NR_158185.1:n.1038A>C
NR_036510.2:n.1069A>C