Canonical Allele Identifier: CA437918481

Gene: IDUA

Linked Data

• gnomAD v4: 4-1000889-G-A
• MyVariant Identifiers: chr4:g.994677G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000889G>A , CM000666.2:g.1000889G>A	GRCh38
NC_000004.11:g.994677G>A , CM000666.1:g.994677G>A	GRCh37
NC_000004.10:g.984677G>A	NCBI36
NG_008103.1:g.18893G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.393G>A	ENSP00000247933.4:p.Glu131=
ENST00000514224.2:c.393G>A MANE Select	ENSP00000425081.2:p.Glu131=
ENST00000652070.1:n.449G>A
ENST00000247933.8:c.393G>A	ENSP00000247933.4:p.Glu131=
ENST00000502910.5:c.252G>A	ENSP00000422952.1:p.Glu84=
ENST00000504568.5:c.353G>A
ENST00000506561.5:n.402G>A
ENST00000508168.5:n.271G>A
ENST00000509948.5:c.186G>A	ENSP00000424227.1:p.Glu62=
ENST00000514192.5:c.210G>A	ENSP00000423685.1:p.Glu70=
ENST00000514224.1:c.-4G>A	ENSP00000425081.1:n.-4G>A
ENST00000514698.5:n.293G>A
NM_000203.4:c.393G>A	NP_000194.2:p.Glu131=
NR_110313.1:n.481G>A
XM_006713882.2:c.-4G>A	XP_006713945.1:n.-4G>A
XM_011513459.1:c.252G>A	XP_011511761.1:p.Glu84=
XM_011513460.1:c.252G>A	XP_011511762.1:p.Glu84=
XM_011513461.1:c.186G>A	XP_011511763.1:p.Glu62=
XM_011513462.1:c.105G>A	XP_011511764.1:p.Glu35=
XM_011513463.1:c.105G>A	XP_011511765.1:p.Glu35=
XR_924947.1:n.462G>A
NM_000203.5:c.393G>A MANE Select	NP_000194.2:p.Glu131=
NM_001363576.1:c.-4G>A	NP_001350505.1:n.-4G>A
XM_011513461.2:c.186G>A	XP_011511763.1:p.Glu62=
XM_017008163.1:c.-1074G>A	XP_016863652.1:n.-1074G>A