Canonical Allele Identifier: CA2802050

Gene: IDUA

Linked Data

• ClinVar Variation Id: 426817
• ClinVar RCV Id: RCV000675603 ; RCV000708550 ; RCV002527033
• dbSNP Id: rs183347428
• ExAC: 4:995544 G / A
• gnomAD v2: 4-995544-G-A
• gnomAD v3: 4-1001756-G-A
• gnomAD v4: 4-1001756-G-A
• MyVariant Identifiers: chr4:g.995544G>A (hg19) ; chr4:g.1001756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001756G>A , CM000666.2:g.1001756G>A	GRCh38
NC_000004.11:g.995544G>A , CM000666.1:g.995544G>A	GRCh37
NC_000004.10:g.985544G>A	NCBI36
NG_008103.1:g.19760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.667G>A	ENSP00000247933.4:p.Asp223Asn
ENST00000514224.2:c.667G>A MANE Select	ENSP00000425081.2:p.Asp223Asn
ENST00000652070.1:n.723G>A
ENST00000247933.8:c.667G>A	ENSP00000247933.4:p.Asp223Asn
ENST00000502910.5:c.526G>A	ENSP00000422952.1:p.Asp176Asn
ENST00000509948.5:c.460G>A	ENSP00000424227.1:p.Asp154Asn
ENST00000514192.5:c.484G>A	ENSP00000423685.1:p.Asp162Asn
ENST00000514224.1:c.271G>A	ENSP00000425081.1:p.Asp91Asn
ENST00000514698.5:n.567G>A
NM_000203.4:c.667G>A	NP_000194.2:p.Asp223Asn
NR_110313.1:n.755G>A
XM_006713882.2:c.271G>A	XP_006713945.1:p.Asp91Asn
XM_011513459.1:c.526G>A	XP_011511761.1:p.Asp176Asn
XM_011513460.1:c.526G>A	XP_011511762.1:p.Asp176Asn
XM_011513461.1:c.460G>A	XP_011511763.1:p.Asp154Asn
XM_011513462.1:c.379G>A	XP_011511764.1:p.Asp127Asn
XM_011513463.1:c.379G>A	XP_011511765.1:p.Asp127Asn
XR_924947.1:n.736G>A
NM_000203.5:c.667G>A MANE Select	NP_000194.2:p.Asp223Asn
NM_001363576.1:c.271G>A	NP_001350505.1:p.Asp91Asn
XM_011513461.2:c.460G>A	XP_011511763.1:p.Asp154Asn
XM_017008163.1:c.-294G>A	XP_016863652.1:n.-294G>A