Canonical Allele Identifier: CA438057998

Gene: IDUA

Linked Data

• dbSNP Id: rs1468485169
• gnomAD v2: 4-997342-G-A
• gnomAD v4: 4-1003554-G-A
• MyVariant Identifiers: chr4:g.997342G>A (hg19) ; chr4:g.1003554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003554G>A , CM000666.2:g.1003554G>A	GRCh38
NC_000004.11:g.997342G>A , CM000666.1:g.997342G>A	GRCh37
NC_000004.10:g.987342G>A	NCBI36
NG_008103.1:g.21558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1656G>A	ENSP00000247933.4:p.Thr552=
ENST00000514224.2:c.1656G>A MANE Select	ENSP00000425081.2:p.Thr552=
ENST00000652070.1:n.1712G>A
ENST00000247933.8:c.1656G>A	ENSP00000247933.4:p.Thr552=
ENST00000514224.1:c.1260G>A	ENSP00000425081.1:p.Thr420=
ENST00000514417.1:n.48G>A
ENST00000514698.5:n.1763G>A
NM_000203.4:c.1656G>A	NP_000194.2:p.Thr552=
NR_110313.1:n.1744G>A
XM_006713882.2:c.1260G>A	XP_006713945.1:p.Thr420=
XM_011513459.1:c.1722G>A	XP_011511761.1:p.Thr574=
XM_011513460.1:c.1515G>A	XP_011511762.1:p.Thr505=
XM_011513461.1:c.1449G>A	XP_011511763.1:p.Thr483=
XM_011513462.1:c.1368G>A	XP_011511764.1:p.Thr456=
XM_011513463.1:c.1368G>A	XP_011511765.1:p.Thr456=
XR_924947.1:n.1912G>A
NM_000203.5:c.1656G>A MANE Select	NP_000194.2:p.Thr552=
NM_001363576.1:c.1260G>A	NP_001350505.1:p.Thr420=
XM_011513461.2:c.1449G>A	XP_011511763.1:p.Thr483=
XM_017008163.1:c.696G>A	XP_016863652.1:p.Thr232=