Canonical Allele Identifier: CA438057955

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003431-G-A
• MyVariant Identifiers: chr4:g.997219G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003431G>A , CM000666.2:g.1003431G>A	GRCh38
NC_000004.11:g.997219G>A , CM000666.1:g.997219G>A	GRCh37
NC_000004.10:g.987219G>A	NCBI36
NG_008103.1:g.21435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1611G>A	ENSP00000247933.4:p.Leu537=
ENST00000514224.2:c.1611G>A MANE Select	ENSP00000425081.2:p.Leu537=
ENST00000652070.1:n.1667G>A
ENST00000247933.8:c.1611G>A	ENSP00000247933.4:p.Leu537=
ENST00000514224.1:c.1215G>A	ENSP00000425081.1:p.Leu405=
ENST00000514417.1:n.3G>A
ENST00000514698.5:n.1718G>A
NM_000203.4:c.1611G>A	NP_000194.2:p.Leu537=
NR_110313.1:n.1699G>A
XM_006713882.2:c.1215G>A	XP_006713945.1:p.Leu405=
XM_011513459.1:c.1677G>A	XP_011511761.1:p.Leu559=
XM_011513460.1:c.1470G>A	XP_011511762.1:p.Leu490=
XM_011513461.1:c.1404G>A	XP_011511763.1:p.Leu468=
XM_011513462.1:c.1323G>A	XP_011511764.1:p.Leu441=
XM_011513463.1:c.1323G>A	XP_011511765.1:p.Leu441=
XR_924947.1:n.1867G>A
NM_000203.5:c.1611G>A MANE Select	NP_000194.2:p.Leu537=
NM_001363576.1:c.1215G>A	NP_001350505.1:p.Leu405=
XM_011513461.2:c.1404G>A	XP_011511763.1:p.Leu468=
XM_017008163.1:c.651G>A	XP_016863652.1:p.Leu217=