Canonical Allele Identifier: CA355962341

Gene: IDUA

Linked Data

• ClinVar Variation Id: 553227
• ClinVar RCV Id: RCV000668628 ; RCV001855504
• dbSNP Id: rs1553917192
• gnomAD v4: 4-1002009-G-T
• MyVariant Identifiers: chr4:g.995797G>T (hg19) ; chr4:g.1002009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002009G>T , CM000666.2:g.1002009G>T	GRCh38
NC_000004.11:g.995797G>T , CM000666.1:g.995797G>T	GRCh37
NC_000004.10:g.985797G>T	NCBI36
NG_008103.1:g.20013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.820G>T	ENSP00000247933.4:p.Glu274Ter
ENST00000514224.2:c.820G>T MANE Select	ENSP00000425081.2:p.Glu274Ter
ENST00000652070.1:n.876G>T
ENST00000247933.8:c.820G>T	ENSP00000247933.4:p.Glu274Ter
ENST00000514192.5:c.637G>T	ENSP00000423685.1:p.Glu213Ter
ENST00000514224.1:c.424G>T	ENSP00000425081.1:p.Glu142Ter
ENST00000514698.5:n.820G>T
NM_000203.4:c.820G>T	NP_000194.2:p.Glu274Ter
NR_110313.1:n.908G>T
XM_006713882.2:c.424G>T	XP_006713945.1:p.Glu142Ter
XM_011513459.1:c.779G>T	XP_011511761.1:p.Gly260Val
XM_011513460.1:c.679G>T	XP_011511762.1:p.Glu227Ter
XM_011513461.1:c.613G>T	XP_011511763.1:p.Glu205Ter
XM_011513462.1:c.532G>T	XP_011511764.1:p.Glu178Ter
XM_011513463.1:c.532G>T	XP_011511765.1:p.Glu178Ter
XR_924947.1:n.889G>T
NM_000203.5:c.820G>T MANE Select	NP_000194.2:p.Glu274Ter
NM_001363576.1:c.424G>T	NP_001350505.1:p.Glu142Ter
XM_011513461.2:c.613G>T	XP_011511763.1:p.Glu205Ter
XM_017008163.1:c.-141G>T	XP_016863652.1:n.-141G>T