Canonical Allele Identifier: CA2802107

Gene: IDUA

Linked Data

• dbSNP Id: rs780587786
• ExAC: 4:995819 A / G
• gnomAD v2: 4-995819-A-G
• gnomAD v4: 4-1002031-A-G
• MyVariant Identifiers: chr4:g.995819A>G (hg19) ; chr4:g.1002031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002031A>G , CM000666.2:g.1002031A>G	GRCh38
NC_000004.11:g.995819A>G , CM000666.1:g.995819A>G	GRCh37
NC_000004.10:g.985819A>G	NCBI36
NG_008103.1:g.20035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.842A>G	ENSP00000247933.4:p.Gln281Arg
ENST00000514224.2:c.842A>G MANE Select	ENSP00000425081.2:p.Gln281Arg
ENST00000652070.1:n.898A>G
ENST00000247933.8:c.842A>G	ENSP00000247933.4:p.Gln281Arg
ENST00000514192.5:c.659A>G	ENSP00000423685.1:p.Gln220Arg
ENST00000514224.1:c.446A>G	ENSP00000425081.1:p.Gln149Arg
ENST00000514698.5:n.842A>G
NM_000203.4:c.842A>G	NP_000194.2:p.Gln281Arg
NR_110313.1:n.930A>G
XM_006713882.2:c.446A>G	XP_006713945.1:p.Gln149Arg
XM_011513459.1:c.801A>G	XP_011511761.1:p.Ala267=
XM_011513460.1:c.701A>G	XP_011511762.1:p.Gln234Arg
XM_011513461.1:c.635A>G	XP_011511763.1:p.Gln212Arg
XM_011513462.1:c.554A>G	XP_011511764.1:p.Gln185Arg
XM_011513463.1:c.554A>G	XP_011511765.1:p.Gln185Arg
XR_924947.1:n.911A>G
NM_000203.5:c.842A>G MANE Select	NP_000194.2:p.Gln281Arg
NM_001363576.1:c.446A>G	NP_001350505.1:p.Gln149Arg
XM_011513461.2:c.635A>G	XP_011511763.1:p.Gln212Arg
XM_017008163.1:c.-119A>G	XP_016863652.1:n.-119A>G