Canonical Allele Identifier: CA355962347

Gene: IDUA

Linked Data

• dbSNP Id: rs1388774665
• gnomAD v2: 4-995800-C-A
• gnomAD v4: 4-1002012-C-A
• MyVariant Identifiers: chr4:g.995800C>A (hg19) ; chr4:g.1002012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002012C>A , CM000666.2:g.1002012C>A	GRCh38
NC_000004.11:g.995800C>A , CM000666.1:g.995800C>A	GRCh37
NC_000004.10:g.985800C>A	NCBI36
NG_008103.1:g.20016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.823C>A	ENSP00000247933.4:p.Gln275Lys
ENST00000514224.2:c.823C>A MANE Select	ENSP00000425081.2:p.Gln275Lys
ENST00000652070.1:n.879C>A
ENST00000247933.8:c.823C>A	ENSP00000247933.4:p.Gln275Lys
ENST00000514192.5:c.640C>A	ENSP00000423685.1:p.Gln214Lys
ENST00000514224.1:c.427C>A	ENSP00000425081.1:p.Gln143Lys
ENST00000514698.5:n.823C>A
NM_000203.4:c.823C>A	NP_000194.2:p.Gln275Lys
NR_110313.1:n.911C>A
XM_006713882.2:c.427C>A	XP_006713945.1:p.Gln143Lys
XM_011513459.1:c.782C>A	XP_011511761.1:p.Ala261Glu
XM_011513460.1:c.682C>A	XP_011511762.1:p.Gln228Lys
XM_011513461.1:c.616C>A	XP_011511763.1:p.Gln206Lys
XM_011513462.1:c.535C>A	XP_011511764.1:p.Gln179Lys
XM_011513463.1:c.535C>A	XP_011511765.1:p.Gln179Lys
XR_924947.1:n.892C>A
NM_000203.5:c.823C>A MANE Select	NP_000194.2:p.Gln275Lys
NM_001363576.1:c.427C>A	NP_001350505.1:p.Gln143Lys
XM_011513461.2:c.616C>A	XP_011511763.1:p.Gln206Lys
XM_017008163.1:c.-138C>A	XP_016863652.1:n.-138C>A