Canonical Allele Identifier: CA438057352

Gene: IDUA

Linked Data

• ClinVar Variation Id: 550409
• ClinVar RCV Id: RCV000665144
• dbSNP Id: rs1553917295
• gnomAD v4: 4-1002379-G-A
• MyVariant Identifiers: chr4:g.996167G>A (hg19) ; chr4:g.1002379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002379G>A , CM000666.2:g.1002379G>A	GRCh38
NC_000004.11:g.996167G>A , CM000666.1:g.996167G>A	GRCh37
NC_000004.10:g.986167G>A	NCBI36
NG_008103.1:g.20383G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1083G>A	ENSP00000247933.4:p.Ala361=
ENST00000514224.2:c.1083G>A MANE Select	ENSP00000425081.2:p.Ala361=
ENST00000652070.1:n.1139G>A
ENST00000247933.8:c.1083G>A	ENSP00000247933.4:p.Ala361=
ENST00000514224.1:c.687G>A	ENSP00000425081.1:p.Ala229=
ENST00000514698.5:n.1190G>A
NM_000203.4:c.1083G>A	NP_000194.2:p.Ala361=
NR_110313.1:n.1171G>A
XM_006713882.2:c.687G>A	XP_006713945.1:p.Ala229=
XM_011513459.1:c.1149G>A	XP_011511761.1:p.Ala383=
XM_011513460.1:c.942G>A	XP_011511762.1:p.Ala314=
XM_011513461.1:c.876G>A	XP_011511763.1:p.Ala292=
XM_011513462.1:c.795G>A	XP_011511764.1:p.Ala265=
XM_011513463.1:c.795G>A	XP_011511765.1:p.Ala265=
XR_924947.1:n.1152G>A
NM_000203.5:c.1083G>A MANE Select	NP_000194.2:p.Ala361=
NM_001363576.1:c.687G>A	NP_001350505.1:p.Ala229=
XM_011513461.2:c.876G>A	XP_011511763.1:p.Ala292=
XM_017008163.1:c.123G>A	XP_016863652.1:p.Ala41=