Canonical Allele Identifier: CA355961763

Gene: IDUA

Linked Data

• dbSNP Id: rs1383523877
• gnomAD v3: 4-1001530-C-G
• gnomAD v4: 4-1001530-C-G
• MyVariant Identifiers: chr4:g.995318C>G (hg19) ; chr4:g.1001530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001530C>G , CM000666.2:g.1001530C>G	GRCh38
NC_000004.11:g.995318C>G , CM000666.1:g.995318C>G	GRCh37
NC_000004.10:g.985318C>G	NCBI36
NG_008103.1:g.19534C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.556C>G	ENSP00000247933.4:p.His186Asp
ENST00000514224.2:c.556C>G MANE Select	ENSP00000425081.2:p.His186Asp
ENST00000652070.1:n.612C>G
ENST00000247933.8:c.556C>G	ENSP00000247933.4:p.His186Asp
ENST00000502910.5:c.415C>G	ENSP00000422952.1:p.His139Asp
ENST00000504568.5:c.516C>G
ENST00000509948.5:c.349C>G	ENSP00000424227.1:p.His117Asp
ENST00000514192.5:c.373C>G	ENSP00000423685.1:p.His125Asp
ENST00000514224.1:c.160C>G	ENSP00000425081.1:p.His54Asp
ENST00000514698.5:n.456C>G
NM_000203.4:c.556C>G	NP_000194.2:p.His186Asp
NR_110313.1:n.644C>G
XM_006713882.2:c.160C>G	XP_006713945.1:p.His54Asp
XM_011513459.1:c.415C>G	XP_011511761.1:p.His139Asp
XM_011513460.1:c.415C>G	XP_011511762.1:p.His139Asp
XM_011513461.1:c.349C>G	XP_011511763.1:p.His117Asp
XM_011513462.1:c.268C>G	XP_011511764.1:p.His90Asp
XM_011513463.1:c.268C>G	XP_011511765.1:p.His90Asp
XR_924947.1:n.625C>G
NM_000203.5:c.556C>G MANE Select	NP_000194.2:p.His186Asp
NM_001363576.1:c.160C>G	NP_001350505.1:p.His54Asp
XM_011513461.2:c.349C>G	XP_011511763.1:p.His117Asp
XM_017008163.1:c.-433C>G	XP_016863652.1:n.-433C>G