Canonical Allele Identifier: CA355961977

Gene: IDUA

Linked Data

• ClinVar Variation Id: 595032
• ClinVar RCV Id: RCV000730456
• dbSNP Id: rs1383674405
• gnomAD v2: 4-995516-C-G
• gnomAD v3: 4-1001728-C-G
• gnomAD v4: 4-1001728-C-G
• MyVariant Identifiers: chr4:g.995516C>G (hg19) ; chr4:g.1001728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001728C>G , CM000666.2:g.1001728C>G	GRCh38
NC_000004.11:g.995516C>G , CM000666.1:g.995516C>G	GRCh37
NC_000004.10:g.985516C>G	NCBI36
NG_008103.1:g.19732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.639C>G	ENSP00000247933.4:p.Ser213Arg
ENST00000514224.2:c.639C>G MANE Select	ENSP00000425081.2:p.Ser213Arg
ENST00000652070.1:n.695C>G
ENST00000247933.8:c.639C>G	ENSP00000247933.4:p.Ser213Arg
ENST00000502910.5:c.498C>G	ENSP00000422952.1:p.Ser166Arg
ENST00000509948.5:c.432C>G	ENSP00000424227.1:p.Ser144Arg
ENST00000514192.5:c.456C>G	ENSP00000423685.1:p.Ser152Arg
ENST00000514224.1:c.243C>G	ENSP00000425081.1:p.Ser81Arg
ENST00000514698.5:n.539C>G
NM_000203.4:c.639C>G	NP_000194.2:p.Ser213Arg
NR_110313.1:n.727C>G
XM_006713882.2:c.243C>G	XP_006713945.1:p.Ser81Arg
XM_011513459.1:c.498C>G	XP_011511761.1:p.Ser166Arg
XM_011513460.1:c.498C>G	XP_011511762.1:p.Ser166Arg
XM_011513461.1:c.432C>G	XP_011511763.1:p.Ser144Arg
XM_011513462.1:c.351C>G	XP_011511764.1:p.Ser117Arg
XM_011513463.1:c.351C>G	XP_011511765.1:p.Ser117Arg
XR_924947.1:n.708C>G
NM_000203.5:c.639C>G MANE Select	NP_000194.2:p.Ser213Arg
NM_001363576.1:c.243C>G	NP_001350505.1:p.Ser81Arg
XM_011513461.2:c.432C>G	XP_011511763.1:p.Ser144Arg
XM_017008163.1:c.-322C>G	XP_016863652.1:n.-322C>G