Canonical Allele Identifier: CA355962152

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995605A>T (hg19) ; chr4:g.1001817A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001817A>T , CM000666.2:g.1001817A>T	GRCh38
NC_000004.11:g.995605A>T , CM000666.1:g.995605A>T	GRCh37
NC_000004.10:g.985605A>T	NCBI36
NG_008103.1:g.19821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.728A>T	ENSP00000247933.4:p.Asp243Val
ENST00000514224.2:c.728A>T MANE Select	ENSP00000425081.2:p.Asp243Val
ENST00000652070.1:n.784A>T
ENST00000247933.8:c.728A>T	ENSP00000247933.4:p.Asp243Val
ENST00000502910.5:c.587A>T	ENSP00000422952.1:p.Asp196Val
ENST00000509948.5:c.521A>T	ENSP00000424227.1:p.Asp174Val
ENST00000514192.5:c.545A>T	ENSP00000423685.1:p.Asp182Val
ENST00000514224.1:c.332A>T	ENSP00000425081.1:p.Asp111Val
ENST00000514698.5:n.628A>T
NM_000203.4:c.728A>T	NP_000194.2:p.Asp243Val
NR_110313.1:n.816A>T
XM_006713882.2:c.332A>T	XP_006713945.1:p.Asp111Val
XM_011513459.1:c.587A>T	XP_011511761.1:p.Asp196Val
XM_011513460.1:c.587A>T	XP_011511762.1:p.Asp196Val
XM_011513461.1:c.521A>T	XP_011511763.1:p.Asp174Val
XM_011513462.1:c.440A>T	XP_011511764.1:p.Asp147Val
XM_011513463.1:c.440A>T	XP_011511765.1:p.Asp147Val
XR_924947.1:n.797A>T
NM_000203.5:c.728A>T MANE Select	NP_000194.2:p.Asp243Val
NM_001363576.1:c.332A>T	NP_001350505.1:p.Asp111Val
XM_011513461.2:c.521A>T	XP_011511763.1:p.Asp174Val
XM_017008163.1:c.-233A>T	XP_016863652.1:n.-233A>T