Canonical Allele Identifier: CA438057599

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002742-G-A
• MyVariant Identifiers: chr4:g.996530G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002742G>A , CM000666.2:g.1002742G>A	GRCh38
NC_000004.11:g.996530G>A , CM000666.1:g.996530G>A	GRCh37
NC_000004.10:g.986530G>A	NCBI36
NG_008103.1:g.20746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1200G>A	ENSP00000247933.4:p.Gln400=
ENST00000514224.2:c.1200G>A MANE Select	ENSP00000425081.2:p.Gln400=
ENST00000652070.1:n.1256G>A
ENST00000247933.8:c.1200G>A	ENSP00000247933.4:p.Gln400=
ENST00000502829.1:n.2G>A
ENST00000514224.1:c.804G>A	ENSP00000425081.1:p.Gln268=
ENST00000514698.5:n.1307G>A
NM_000203.4:c.1200G>A	NP_000194.2:p.Gln400=
NR_110313.1:n.1288G>A
XM_006713882.2:c.804G>A	XP_006713945.1:p.Gln268=
XM_011513459.1:c.1266G>A	XP_011511761.1:p.Gln422=
XM_011513460.1:c.1059G>A	XP_011511762.1:p.Gln353=
XM_011513461.1:c.993G>A	XP_011511763.1:p.Gln331=
XM_011513462.1:c.912G>A	XP_011511764.1:p.Gln304=
XM_011513463.1:c.912G>A	XP_011511765.1:p.Gln304=
XR_924947.1:n.1269G>A
NM_000203.5:c.1200G>A MANE Select	NP_000194.2:p.Gln400=
NM_001363576.1:c.804G>A	NP_001350505.1:p.Gln268=
XM_011513461.2:c.993G>A	XP_011511763.1:p.Gln331=
XM_017008163.1:c.240G>A	XP_016863652.1:p.Gln80=