Canonical Allele Identifier: CA2802356

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2147891
• ClinVar RCV Id: RCV003061133
• dbSNP Id: rs764370443
• ExAC: 4:997393 G / A
• gnomAD v2: 4-997393-G-A
• gnomAD v3: 4-1003605-G-A
• gnomAD v4: 4-1003605-G-A
• MyVariant Identifiers: chr4:g.997393G>A (hg19) ; chr4:g.1003605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003605G>A , CM000666.2:g.1003605G>A	GRCh38
NC_000004.11:g.997393G>A , CM000666.1:g.997393G>A	GRCh37
NC_000004.10:g.987393G>A	NCBI36
NG_008103.1:g.21609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1707G>A	ENSP00000247933.4:p.Ser569=
ENST00000514224.2:c.1707G>A MANE Select	ENSP00000425081.2:p.Ser569=
ENST00000652070.1:n.1763G>A
ENST00000247933.8:c.1707G>A	ENSP00000247933.4:p.Ser569=
ENST00000514224.1:c.1311G>A	ENSP00000425081.1:p.Ser437=
ENST00000514417.1:n.99G>A
ENST00000514698.5:n.1814G>A
NM_000203.4:c.1707G>A	NP_000194.2:p.Ser569=
NR_110313.1:n.1795G>A
XM_006713882.2:c.1311G>A	XP_006713945.1:p.Ser437=
XM_011513459.1:c.1773G>A	XP_011511761.1:p.Ser591=
XM_011513460.1:c.1566G>A	XP_011511762.1:p.Ser522=
XM_011513461.1:c.1500G>A	XP_011511763.1:p.Ser500=
XM_011513462.1:c.1419G>A	XP_011511764.1:p.Ser473=
XM_011513463.1:c.1419G>A	XP_011511765.1:p.Ser473=
XR_924947.1:n.1963G>A
NM_000203.5:c.1707G>A MANE Select	NP_000194.2:p.Ser569=
NM_001363576.1:c.1311G>A	NP_001350505.1:p.Ser437=
XM_011513461.2:c.1500G>A	XP_011511763.1:p.Ser500=
XM_017008163.1:c.747G>A	XP_016863652.1:p.Ser249=