Canonical Allele Identifier: CA355962409

Gene: IDUA

Linked Data

• dbSNP Id: rs1209648267
• gnomAD v3: 4-1002040-G-A
• gnomAD v4: 4-1002040-G-A
• MyVariant Identifiers: chr4:g.995828G>A (hg19) ; chr4:g.1002040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002040G>A , CM000666.2:g.1002040G>A	GRCh38
NC_000004.11:g.995828G>A , CM000666.1:g.995828G>A	GRCh37
NC_000004.10:g.985828G>A	NCBI36
NG_008103.1:g.20044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.851G>A	ENSP00000247933.4:p.Arg284Gln
ENST00000514224.2:c.851G>A MANE Select	ENSP00000425081.2:p.Arg284Gln
ENST00000652070.1:n.907G>A
ENST00000247933.8:c.851G>A	ENSP00000247933.4:p.Arg284Gln
ENST00000514192.5:c.668G>A	ENSP00000423685.1:p.Arg223Gln
ENST00000514224.1:c.455G>A	ENSP00000425081.1:p.Arg152Gln
ENST00000514698.5:n.851G>A
NM_000203.4:c.851G>A	NP_000194.2:p.Arg284Gln
NR_110313.1:n.939G>A
XM_006713882.2:c.455G>A	XP_006713945.1:p.Arg152Gln
XM_011513459.1:c.810G>A	XP_011511761.1:p.Pro270=
XM_011513460.1:c.710G>A	XP_011511762.1:p.Arg237Gln
XM_011513461.1:c.644G>A	XP_011511763.1:p.Arg215Gln
XM_011513462.1:c.563G>A	XP_011511764.1:p.Arg188Gln
XM_011513463.1:c.563G>A	XP_011511765.1:p.Arg188Gln
XR_924947.1:n.920G>A
NM_000203.5:c.851G>A MANE Select	NP_000194.2:p.Arg284Gln
NM_001363576.1:c.455G>A	NP_001350505.1:p.Arg152Gln
XM_011513461.2:c.644G>A	XP_011511763.1:p.Arg215Gln
XM_017008163.1:c.-110G>A	XP_016863652.1:n.-110G>A