Canonical Allele Identifier: CA220498

Gene: IDUA

Linked Data

• ClinVar Variation Id: 11908
• ClinVar RCV Id: RCV000012683 ; RCV000078374 ; RCV000384297 ; RCV000477890 ; RCV001004934 ; RCV002251896 ; RCV002227032 ; RCV003398488 ; RCV002512986
• dbSNP Id: rs121965019
• ExAC: 4:996535 G / A
• gnomAD v2: 4-996535-G-A
• gnomAD v3: 4-1002747-G-A
• gnomAD v4: 4-1002747-G-A
• MyVariant Identifiers: chr4:g.996535G>A (hg19) ; chr4:g.1002747G>A (hg38)
• PubMed: PMID:1301196 ; PMID:4221470 ; PMID:7951228 ; PMID:8680403 ; PMID:9427149 ; PMID:11735025 ; PMID:12509712 ; PMID:19751987 ; PMID:20301341 ; PMID:22976768 ; PMID:23786846 ; PMID:23891399 ; PMID:24368159 ; PMID:24698225 ; PMID:24798265 ; PMID:25525159 ; PMID:27511503

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002747G>A , CM000666.2:g.1002747G>A	GRCh38
NC_000004.11:g.996535G>A , CM000666.1:g.996535G>A	GRCh37
NC_000004.10:g.986535G>A	NCBI36
NG_008103.1:g.20751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1205G>A	ENSP00000247933.4:p.Trp402Ter
ENST00000514224.2:c.1205G>A MANE Select	ENSP00000425081.2:p.Trp402Ter
ENST00000652070.1:n.1261G>A
ENST00000247933.8:c.1205G>A	ENSP00000247933.4:p.Trp402Ter
ENST00000502829.1:n.7G>A
ENST00000514224.1:c.809G>A	ENSP00000425081.1:p.Trp270Ter
ENST00000514698.5:n.1312G>A
NM_000203.4:c.1205G>A	NP_000194.2:p.Trp402Ter
NR_110313.1:n.1293G>A
XM_006713882.2:c.809G>A	XP_006713945.1:p.Trp270Ter
XM_011513459.1:c.1271G>A	XP_011511761.1:p.Trp424Ter
XM_011513460.1:c.1064G>A	XP_011511762.1:p.Trp355Ter
XM_011513461.1:c.998G>A	XP_011511763.1:p.Trp333Ter
XM_011513462.1:c.917G>A	XP_011511764.1:p.Trp306Ter
XM_011513463.1:c.917G>A	XP_011511765.1:p.Trp306Ter
XR_924947.1:n.1274G>A
NM_000203.5:c.1205G>A MANE Select	NP_000194.2:p.Trp402Ter
NM_001363576.1:c.809G>A	NP_001350505.1:p.Trp270Ter
XM_011513461.2:c.998G>A	XP_011511763.1:p.Trp333Ter
XM_017008163.1:c.245G>A	XP_016863652.1:p.Trp82Ter