Canonical Allele Identifier: CA355964878

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003347-C-A
• MyVariant Identifiers: chr4:g.997135C>A (hg19) ; chr4:g.1003347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003347C>A , CM000666.2:g.1003347C>A	GRCh38
NC_000004.11:g.997135C>A , CM000666.1:g.997135C>A	GRCh37
NC_000004.10:g.987135C>A	NCBI36
NG_008103.1:g.21351C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1527C>A	ENSP00000247933.4:p.Asp509Glu
ENST00000514224.2:c.1527C>A MANE Select	ENSP00000425081.2:p.Asp509Glu
ENST00000652070.1:n.1583C>A
ENST00000247933.8:c.1527C>A	ENSP00000247933.4:p.Asp509Glu
ENST00000502829.1:n.516C>A
ENST00000514224.1:c.1131C>A	ENSP00000425081.1:p.Asp377Glu
ENST00000514698.5:n.1634C>A
NM_000203.4:c.1527C>A	NP_000194.2:p.Asp509Glu
NR_110313.1:n.1615C>A
XM_006713882.2:c.1131C>A	XP_006713945.1:p.Asp377Glu
XM_011513459.1:c.1593C>A	XP_011511761.1:p.Asp531Glu
XM_011513460.1:c.1386C>A	XP_011511762.1:p.Asp462Glu
XM_011513461.1:c.1320C>A	XP_011511763.1:p.Asp440Glu
XM_011513462.1:c.1239C>A	XP_011511764.1:p.Asp413Glu
XM_011513463.1:c.1239C>A	XP_011511765.1:p.Asp413Glu
XR_924947.1:n.1783C>A
NM_000203.5:c.1527C>A MANE Select	NP_000194.2:p.Asp509Glu
NM_001363576.1:c.1131C>A	NP_001350505.1:p.Asp377Glu
XM_011513461.2:c.1320C>A	XP_011511763.1:p.Asp440Glu
XM_017008163.1:c.567C>A	XP_016863652.1:p.Asp189Glu