Canonical Allele Identifier: CA438057646

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002286-G-A
• MyVariant Identifiers: chr4:g.996074G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002286G>A , CM000666.2:g.1002286G>A	GRCh38
NC_000004.11:g.996074G>A , CM000666.1:g.996074G>A	GRCh37
NC_000004.10:g.986074G>A	NCBI36
NG_008103.1:g.20290G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.990G>A	ENSP00000247933.4:p.Gln330=
ENST00000514224.2:c.990G>A MANE Select	ENSP00000425081.2:p.Gln330=
ENST00000652070.1:n.1046G>A
ENST00000247933.8:c.990G>A	ENSP00000247933.4:p.Gln330=
ENST00000514224.1:c.594G>A	ENSP00000425081.1:p.Gln198=
ENST00000514698.5:n.1097G>A
NM_000203.4:c.990G>A	NP_000194.2:p.Gln330=
NR_110313.1:n.1078G>A
XM_006713882.2:c.594G>A	XP_006713945.1:p.Gln198=
XM_011513459.1:c.1056G>A	XP_011511761.1:p.Gln352=
XM_011513460.1:c.849G>A	XP_011511762.1:p.Gln283=
XM_011513461.1:c.783G>A	XP_011511763.1:p.Gln261=
XM_011513462.1:c.702G>A	XP_011511764.1:p.Gln234=
XM_011513463.1:c.702G>A	XP_011511765.1:p.Gln234=
XR_924947.1:n.1059G>A
NM_000203.5:c.990G>A MANE Select	NP_000194.2:p.Gln330=
NM_001363576.1:c.594G>A	NP_001350505.1:p.Gln198=
XM_011513461.2:c.783G>A	XP_011511763.1:p.Gln261=
XM_017008163.1:c.30G>A	XP_016863652.1:p.Gln10=