Canonical Allele Identifier: CA355962708

Gene: IDUA

Linked Data

• dbSNP Id: rs1188592487
• gnomAD v2: 4-995914-A-G
• gnomAD v4: 4-1002126-A-G
• MyVariant Identifiers: chr4:g.995914A>G (hg19) ; chr4:g.1002126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002126A>G , CM000666.2:g.1002126A>G	GRCh38
NC_000004.11:g.995914A>G , CM000666.1:g.995914A>G	GRCh37
NC_000004.10:g.985914A>G	NCBI36
NG_008103.1:g.20130A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.937A>G	ENSP00000247933.4:p.Arg313Gly
ENST00000514224.2:c.937A>G MANE Select	ENSP00000425081.2:p.Arg313Gly
ENST00000652070.1:n.993A>G
ENST00000247933.8:c.937A>G	ENSP00000247933.4:p.Arg313Gly
ENST00000514224.1:c.541A>G	ENSP00000425081.1:p.Arg181Gly
ENST00000514698.5:n.937A>G
NM_000203.4:c.937A>G	NP_000194.2:p.Arg313Gly
NR_110313.1:n.1025A>G
XM_006713882.2:c.541A>G	XP_006713945.1:p.Arg181Gly
XM_011513459.1:c.896A>G	XP_011511761.1:p.Glu299Gly
XM_011513460.1:c.796A>G	XP_011511762.1:p.Arg266Gly
XM_011513461.1:c.730A>G	XP_011511763.1:p.Arg244Gly
XM_011513462.1:c.649A>G	XP_011511764.1:p.Arg217Gly
XM_011513463.1:c.649A>G	XP_011511765.1:p.Arg217Gly
XR_924947.1:n.1006A>G
NM_000203.5:c.937A>G MANE Select	NP_000194.2:p.Arg313Gly
NM_001363576.1:c.541A>G	NP_001350505.1:p.Arg181Gly
XM_011513461.2:c.730A>G	XP_011511763.1:p.Arg244Gly
XM_017008163.1:c.-24A>G	XP_016863652.1:n.-24A>G