Canonical Allele Identifier: CA355961944

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2832157
• ClinVar RCV Id: RCV003755610
• gnomAD v4: 4-1001710-G-T
• MyVariant Identifiers: chr4:g.995498G>T (hg19) ; chr4:g.1001710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001710G>T , CM000666.2:g.1001710G>T	GRCh38
NC_000004.11:g.995498G>T , CM000666.1:g.995498G>T	GRCh37
NC_000004.10:g.985498G>T	NCBI36
NG_008103.1:g.19714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.621G>T	ENSP00000247933.4:p.Glu207Asp
ENST00000514224.2:c.621G>T MANE Select	ENSP00000425081.2:p.Glu207Asp
ENST00000652070.1:n.677G>T
ENST00000247933.8:c.621G>T	ENSP00000247933.4:p.Glu207Asp
ENST00000502910.5:c.480G>T	ENSP00000422952.1:p.Glu160Asp
ENST00000504568.5:c.581G>T
ENST00000509948.5:c.414G>T	ENSP00000424227.1:p.Glu138Asp
ENST00000514192.5:c.438G>T	ENSP00000423685.1:p.Glu146Asp
ENST00000514224.1:c.225G>T	ENSP00000425081.1:p.Glu75Asp
ENST00000514698.5:n.521G>T
NM_000203.4:c.621G>T	NP_000194.2:p.Glu207Asp
NR_110313.1:n.709G>T
XM_006713882.2:c.225G>T	XP_006713945.1:p.Glu75Asp
XM_011513459.1:c.480G>T	XP_011511761.1:p.Glu160Asp
XM_011513460.1:c.480G>T	XP_011511762.1:p.Glu160Asp
XM_011513461.1:c.414G>T	XP_011511763.1:p.Glu138Asp
XM_011513462.1:c.333G>T	XP_011511764.1:p.Glu111Asp
XM_011513463.1:c.333G>T	XP_011511765.1:p.Glu111Asp
XR_924947.1:n.690G>T
NM_000203.5:c.621G>T MANE Select	NP_000194.2:p.Glu207Asp
NM_001363576.1:c.225G>T	NP_001350505.1:p.Glu75Asp
XM_011513461.2:c.414G>T	XP_011511763.1:p.Glu138Asp
XM_017008163.1:c.-340G>T	XP_016863652.1:n.-340G>T