Canonical Allele Identifier: CA355962434

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002052-C-A
• MyVariant Identifiers: chr4:g.995840C>A (hg19) ; chr4:g.1002052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002052C>A , CM000666.2:g.1002052C>A	GRCh38
NC_000004.11:g.995840C>A , CM000666.1:g.995840C>A	GRCh37
NC_000004.10:g.985840C>A	NCBI36
NG_008103.1:g.20056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.863C>A	ENSP00000247933.4:p.Pro288His
ENST00000514224.2:c.863C>A MANE Select	ENSP00000425081.2:p.Pro288His
ENST00000652070.1:n.919C>A
ENST00000247933.8:c.863C>A	ENSP00000247933.4:p.Pro288His
ENST00000514192.5:c.680C>A	ENSP00000423685.1:p.Pro227His
ENST00000514224.1:c.467C>A	ENSP00000425081.1:p.Pro156His
ENST00000514698.5:n.863C>A
NM_000203.4:c.863C>A	NP_000194.2:p.Pro288His
NR_110313.1:n.951C>A
XM_006713882.2:c.467C>A	XP_006713945.1:p.Pro156His
XM_011513459.1:c.822C>A	XP_011511761.1:p.Pro274=
XM_011513460.1:c.722C>A	XP_011511762.1:p.Pro241His
XM_011513461.1:c.656C>A	XP_011511763.1:p.Pro219His
XM_011513462.1:c.575C>A	XP_011511764.1:p.Pro192His
XM_011513463.1:c.575C>A	XP_011511765.1:p.Pro192His
XR_924947.1:n.932C>A
NM_000203.5:c.863C>A MANE Select	NP_000194.2:p.Pro288His
NM_001363576.1:c.467C>A	NP_001350505.1:p.Pro156His
XM_011513461.2:c.656C>A	XP_011511763.1:p.Pro219His
XM_017008163.1:c.-98C>A	XP_016863652.1:n.-98C>A