Canonical Allele Identifier: CA2802095

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2193713
• ClinVar RCV Id: RCV002624031 ; RCV003130853
• dbSNP Id: rs375798875
• ExAC: 4:995761 C / A
• gnomAD v2: 4-995761-C-A
• gnomAD v3: 4-1001973-C-A
• gnomAD v4: 4-1001973-C-A
• MyVariant Identifiers: chr4:g.995761C>A (hg19) ; chr4:g.1001973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001973C>A , CM000666.2:g.1001973C>A	GRCh38
NC_000004.11:g.995761C>A , CM000666.1:g.995761C>A	GRCh37
NC_000004.10:g.985761C>A	NCBI36
NG_008103.1:g.19977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-9C>A	ENSP00000247933.4:n.793-9C>A
ENST00000514224.2:c.793-9C>A MANE Select	ENSP00000425081.2:n.793-9C>A
ENST00000652070.1:n.849-9C>A
ENST00000247933.8:c.793-9C>A	ENSP00000247933.4:n.793-9C>A
ENST00000502910.5:c.652-9C>A	ENSP00000422952.1:n.652-9C>A
ENST00000514192.5:c.610-9C>A	ENSP00000423685.1:n.610-9C>A
ENST00000514224.1:c.397-9C>A	ENSP00000425081.1:n.397-9C>A
ENST00000514698.5:n.784C>A
NM_000203.4:c.793-9C>A	NP_000194.2:n.793-9C>A
NR_110313.1:n.881-9C>A
XM_006713882.2:c.397-9C>A	XP_006713945.1:n.397-9C>A
XM_011513459.1:c.743C>A	XP_011511761.1:p.Pro248Gln
XM_011513460.1:c.652-9C>A	XP_011511762.1:n.652-9C>A
XM_011513461.1:c.586-9C>A	XP_011511763.1:n.586-9C>A
XM_011513462.1:c.505-9C>A	XP_011511764.1:n.505-9C>A
XM_011513463.1:c.505-9C>A	XP_011511765.1:n.505-9C>A
XR_924947.1:n.862-9C>A
NM_000203.5:c.793-9C>A MANE Select	NP_000194.2:n.793-9C>A
NM_001363576.1:c.397-9C>A	NP_001350505.1:n.397-9C>A
XM_011513461.2:c.586-9C>A	XP_011511763.1:n.586-9C>A
XM_017008163.1:c.-168-9C>A	XP_016863652.1:n.-168-9C>A