Canonical Allele Identifier: CA355962355

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002015-G-A
• MyVariant Identifiers: chr4:g.995803G>A (hg19) ; chr4:g.1002015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002015G>A , CM000666.2:g.1002015G>A	GRCh38
NC_000004.11:g.995803G>A , CM000666.1:g.995803G>A	GRCh37
NC_000004.10:g.985803G>A	NCBI36
NG_008103.1:g.20019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.826G>A	ENSP00000247933.4:p.Glu276Lys
ENST00000514224.2:c.826G>A MANE Select	ENSP00000425081.2:p.Glu276Lys
ENST00000652070.1:n.882G>A
ENST00000247933.8:c.826G>A	ENSP00000247933.4:p.Glu276Lys
ENST00000514192.5:c.643G>A	ENSP00000423685.1:p.Glu215Lys
ENST00000514224.1:c.430G>A	ENSP00000425081.1:p.Glu144Lys
ENST00000514698.5:n.826G>A
NM_000203.4:c.826G>A	NP_000194.2:p.Glu276Lys
NR_110313.1:n.914G>A
XM_006713882.2:c.430G>A	XP_006713945.1:p.Glu144Lys
XM_011513459.1:c.785G>A	XP_011511761.1:p.Gly262Glu
XM_011513460.1:c.685G>A	XP_011511762.1:p.Glu229Lys
XM_011513461.1:c.619G>A	XP_011511763.1:p.Glu207Lys
XM_011513462.1:c.538G>A	XP_011511764.1:p.Glu180Lys
XM_011513463.1:c.538G>A	XP_011511765.1:p.Glu180Lys
XR_924947.1:n.895G>A
NM_000203.5:c.826G>A MANE Select	NP_000194.2:p.Glu276Lys
NM_001363576.1:c.430G>A	NP_001350505.1:p.Glu144Lys
XM_011513461.2:c.619G>A	XP_011511763.1:p.Glu207Lys
XM_017008163.1:c.-135G>A	XP_016863652.1:n.-135G>A