Canonical Allele Identifier: CA355961975

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001727-G-A
• MyVariant Identifiers: chr4:g.995515G>A (hg19) ; chr4:g.1001727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001727G>A , CM000666.2:g.1001727G>A	GRCh38
NC_000004.11:g.995515G>A , CM000666.1:g.995515G>A	GRCh37
NC_000004.10:g.985515G>A	NCBI36
NG_008103.1:g.19731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.638G>A	ENSP00000247933.4:p.Ser213Asn
ENST00000514224.2:c.638G>A MANE Select	ENSP00000425081.2:p.Ser213Asn
ENST00000652070.1:n.694G>A
ENST00000247933.8:c.638G>A	ENSP00000247933.4:p.Ser213Asn
ENST00000502910.5:c.497G>A	ENSP00000422952.1:p.Ser166Asn
ENST00000509948.5:c.431G>A	ENSP00000424227.1:p.Ser144Asn
ENST00000514192.5:c.455G>A	ENSP00000423685.1:p.Ser152Asn
ENST00000514224.1:c.242G>A	ENSP00000425081.1:p.Ser81Asn
ENST00000514698.5:n.538G>A
NM_000203.4:c.638G>A	NP_000194.2:p.Ser213Asn
NR_110313.1:n.726G>A
XM_006713882.2:c.242G>A	XP_006713945.1:p.Ser81Asn
XM_011513459.1:c.497G>A	XP_011511761.1:p.Ser166Asn
XM_011513460.1:c.497G>A	XP_011511762.1:p.Ser166Asn
XM_011513461.1:c.431G>A	XP_011511763.1:p.Ser144Asn
XM_011513462.1:c.350G>A	XP_011511764.1:p.Ser117Asn
XM_011513463.1:c.350G>A	XP_011511765.1:p.Ser117Asn
XR_924947.1:n.707G>A
NM_000203.5:c.638G>A MANE Select	NP_000194.2:p.Ser213Asn
NM_001363576.1:c.242G>A	NP_001350505.1:p.Ser81Asn
XM_011513461.2:c.431G>A	XP_011511763.1:p.Ser144Asn
XM_017008163.1:c.-323G>A	XP_016863652.1:n.-323G>A