Canonical Allele Identifier: CA2802075

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1104331
• ClinVar RCV Id: RCV001428373
• dbSNP Id: rs776670337
• ExAC: 4:995633 G / A
• gnomAD v2: 4-995633-G-A
• gnomAD v3: 4-1001845-G-A
• gnomAD v4: 4-1001845-G-A
• MyVariant Identifiers: chr4:g.995633G>A (hg19) ; chr4:g.1001845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001845G>A , CM000666.2:g.1001845G>A	GRCh38
NC_000004.11:g.995633G>A , CM000666.1:g.995633G>A	GRCh37
NC_000004.10:g.985633G>A	NCBI36
NG_008103.1:g.19849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.756G>A	ENSP00000247933.4:p.Ala252=
ENST00000514224.2:c.756G>A MANE Select	ENSP00000425081.2:p.Ala252=
ENST00000652070.1:n.812G>A
ENST00000247933.8:c.756G>A	ENSP00000247933.4:p.Ala252=
ENST00000502910.5:c.615G>A	ENSP00000422952.1:p.Ala205=
ENST00000514192.5:c.573G>A	ENSP00000423685.1:p.Ala191=
ENST00000514224.1:c.360G>A	ENSP00000425081.1:p.Ala120=
ENST00000514698.5:n.656G>A
NM_000203.4:c.756G>A	NP_000194.2:p.Ala252=
NR_110313.1:n.844G>A
XM_006713882.2:c.360G>A	XP_006713945.1:p.Ala120=
XM_011513459.1:c.615G>A	XP_011511761.1:p.Ala205=
XM_011513460.1:c.615G>A	XP_011511762.1:p.Ala205=
XM_011513461.1:c.549G>A	XP_011511763.1:p.Ala183=
XM_011513462.1:c.468G>A	XP_011511764.1:p.Ala156=
XM_011513463.1:c.468G>A	XP_011511765.1:p.Ala156=
XR_924947.1:n.825G>A
NM_000203.5:c.756G>A MANE Select	NP_000194.2:p.Ala252=
NM_001363576.1:c.360G>A	NP_001350505.1:p.Ala120=
XM_011513461.2:c.549G>A	XP_011511763.1:p.Ala183=
XM_017008163.1:c.-205G>A	XP_016863652.1:n.-205G>A