Canonical Allele Identifier: CA355962014

Gene: IDUA

Linked Data

• dbSNP Id: rs1362102709
• gnomAD v2: 4-995536-G-T
• gnomAD v4: 4-1001748-G-T
• MyVariant Identifiers: chr4:g.995536G>T (hg19) ; chr4:g.1001748G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001748G>T , CM000666.2:g.1001748G>T	GRCh38
NC_000004.11:g.995536G>T , CM000666.1:g.995536G>T	GRCh37
NC_000004.10:g.985536G>T	NCBI36
NG_008103.1:g.19752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.659G>T	ENSP00000247933.4:p.Gly220Val
ENST00000514224.2:c.659G>T MANE Select	ENSP00000425081.2:p.Gly220Val
ENST00000652070.1:n.715G>T
ENST00000247933.8:c.659G>T	ENSP00000247933.4:p.Gly220Val
ENST00000502910.5:c.518G>T	ENSP00000422952.1:p.Gly173Val
ENST00000509948.5:c.452G>T	ENSP00000424227.1:p.Gly151Val
ENST00000514192.5:c.476G>T	ENSP00000423685.1:p.Gly159Val
ENST00000514224.1:c.263G>T	ENSP00000425081.1:p.Gly88Val
ENST00000514698.5:n.559G>T
NM_000203.4:c.659G>T	NP_000194.2:p.Gly220Val
NR_110313.1:n.747G>T
XM_006713882.2:c.263G>T	XP_006713945.1:p.Gly88Val
XM_011513459.1:c.518G>T	XP_011511761.1:p.Gly173Val
XM_011513460.1:c.518G>T	XP_011511762.1:p.Gly173Val
XM_011513461.1:c.452G>T	XP_011511763.1:p.Gly151Val
XM_011513462.1:c.371G>T	XP_011511764.1:p.Gly124Val
XM_011513463.1:c.371G>T	XP_011511765.1:p.Gly124Val
XR_924947.1:n.728G>T
NM_000203.5:c.659G>T MANE Select	NP_000194.2:p.Gly220Val
NM_001363576.1:c.263G>T	NP_001350505.1:p.Gly88Val
XM_011513461.2:c.452G>T	XP_011511763.1:p.Gly151Val
XM_017008163.1:c.-302G>T	XP_016863652.1:n.-302G>T