Canonical Allele Identifier: CA91169370

Gene: IDUA

Linked Data

• ClinVar Variation Id: 496834
• ClinVar RCV Id: RCV000592196 ; RCV000723433 ; RCV001215791
• dbSNP Id: rs794727896
• gnomAD v2: 4-996247-C-G
• gnomAD v3: 4-1002459-C-G
• gnomAD v4: 4-1002459-C-G
• MyVariant Identifiers: chr4:g.996247C>G (hg19) ; chr4:g.1002459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002459C>G , CM000666.2:g.1002459C>G	GRCh38
NC_000004.11:g.996247C>G , CM000666.1:g.996247C>G	GRCh37
NC_000004.10:g.986247C>G	NCBI36
NG_008103.1:g.20463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1163C>G	ENSP00000247933.4:p.Thr388Arg
ENST00000514224.2:c.1163C>G MANE Select	ENSP00000425081.2:p.Thr388Arg
ENST00000652070.1:n.1219C>G
ENST00000247933.8:c.1163C>G	ENSP00000247933.4:p.Thr388Arg
ENST00000514224.1:c.767C>G	ENSP00000425081.1:p.Thr256Arg
ENST00000514698.5:n.1270C>G
NM_000203.4:c.1163C>G	NP_000194.2:p.Thr388Arg
NR_110313.1:n.1251C>G
XM_006713882.2:c.767C>G	XP_006713945.1:p.Thr256Arg
XM_011513459.1:c.1229C>G	XP_011511761.1:p.Thr410Arg
XM_011513460.1:c.1022C>G	XP_011511762.1:p.Thr341Arg
XM_011513461.1:c.956C>G	XP_011511763.1:p.Thr319Arg
XM_011513462.1:c.875C>G	XP_011511764.1:p.Thr292Arg
XM_011513463.1:c.875C>G	XP_011511765.1:p.Thr292Arg
XR_924947.1:n.1232C>G
NM_000203.5:c.1163C>G MANE Select	NP_000194.2:p.Thr388Arg
NM_001363576.1:c.767C>G	NP_001350505.1:p.Thr256Arg
XM_011513461.2:c.956C>G	XP_011511763.1:p.Thr319Arg
XM_017008163.1:c.203C>G	XP_016863652.1:p.Thr68Arg