Canonical Allele Identifier: CA220497
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 92623
dbSNP Id: rs368454909
gnomAD v2: 4-996129-G-A
gnomAD v3: 4-1002341-G-A
gnomAD v4: 4-1002341-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002341G>A , CM000666.2:g.1002341G>A GRCh38
NC_000004.11:g.996129G>A , CM000666.1:g.996129G>A GRCh37
NC_000004.10:g.986129G>A NCBI36
NG_008103.1:g.20345G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.1045G>A ENSP00000247933.4:p.Asp349Asn
ENST00000514224.2:c.1045G>A MANE Select ENSP00000425081.2:p.Asp349Asn
ENST00000652070.1:n.1101G>A
ENST00000247933.8:c.1045G>A ENSP00000247933.4:p.Asp349Asn
ENST00000514224.1:c.649G>A ENSP00000425081.1:p.Asp217Asn
ENST00000514698.5:n.1152G>A
NM_000203.4:c.1045G>A NP_000194.2:p.Asp349Asn
NR_110313.1:n.1133G>A
XM_006713882.2:c.649G>A XP_006713945.1:p.Asp217Asn
XM_011513459.1:c.1111G>A XP_011511761.1:p.Asp371Asn
XM_011513460.1:c.904G>A XP_011511762.1:p.Asp302Asn
XM_011513461.1:c.838G>A XP_011511763.1:p.Asp280Asn
XM_011513462.1:c.757G>A XP_011511764.1:p.Asp253Asn
XM_011513463.1:c.757G>A XP_011511765.1:p.Asp253Asn
XR_924947.1:n.1114G>A
NM_000203.5:c.1045G>A MANE Select NP_000194.2:p.Asp349Asn
NM_001363576.1:c.649G>A NP_001350505.1:p.Asp217Asn
XM_011513461.2:c.838G>A XP_011511763.1:p.Asp280Asn
XM_017008163.1:c.85G>A XP_016863652.1:p.Asp29Asn