Canonical Allele Identifier: CA2802035

Gene: IDUA

Linked Data

• dbSNP Id: rs753678881
• ExAC: 4:995498 G / A
• gnomAD v2: 4-995498-G-A
• gnomAD v4: 4-1001710-G-A
• MyVariant Identifiers: chr4:g.995498G>A (hg19) ; chr4:g.1001710G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.621G>A	ENSP00000247933.4:p.Glu207=
ENST00000514224.2:c.621G>A MANE Select	ENSP00000425081.2:p.Glu207=
ENST00000652070.1:n.677G>A
ENST00000247933.8:c.621G>A	ENSP00000247933.4:p.Glu207=
ENST00000502910.5:c.480G>A	ENSP00000422952.1:p.Glu160=
ENST00000504568.5:c.581G>A
ENST00000509948.5:c.414G>A	ENSP00000424227.1:p.Glu138=
ENST00000514192.5:c.438G>A	ENSP00000423685.1:p.Glu146=
ENST00000514224.1:c.225G>A	ENSP00000425081.1:p.Glu75=
ENST00000514698.5:n.521G>A
NM_000203.4:c.621G>A	NP_000194.2:p.Glu207=
NR_110313.1:n.709G>A
XM_006713882.2:c.225G>A	XP_006713945.1:p.Glu75=
XM_011513459.1:c.480G>A	XP_011511761.1:p.Glu160=
XM_011513460.1:c.480G>A	XP_011511762.1:p.Glu160=
XM_011513461.1:c.414G>A	XP_011511763.1:p.Glu138=
XM_011513462.1:c.333G>A	XP_011511764.1:p.Glu111=
XM_011513463.1:c.333G>A	XP_011511765.1:p.Glu111=
XR_924947.1:n.690G>A
NM_000203.5:c.621G>A MANE Select	NP_000194.2:p.Glu207=
NM_001363576.1:c.225G>A	NP_001350505.1:p.Glu75=
XM_011513461.2:c.414G>A	XP_011511763.1:p.Glu138=
XM_017008163.1:c.-340G>A	XP_016863652.1:n.-340G>A