Canonical Allele Identifier: CA355963533

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002739-G-T
• MyVariant Identifiers: chr4:g.996527G>T (hg19) ; chr4:g.1002739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002739G>T , CM000666.2:g.1002739G>T	GRCh38
NC_000004.11:g.996527G>T , CM000666.1:g.996527G>T	GRCh37
NC_000004.10:g.986527G>T	NCBI36
NG_008103.1:g.20743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1197G>T	ENSP00000247933.4:p.Glu399Asp
ENST00000514224.2:c.1197G>T MANE Select	ENSP00000425081.2:p.Glu399Asp
ENST00000652070.1:n.1253G>T
ENST00000247933.8:c.1197G>T	ENSP00000247933.4:p.Glu399Asp
ENST00000514224.1:c.801G>T	ENSP00000425081.1:p.Glu267Asp
ENST00000514698.5:n.1304G>T
NM_000203.4:c.1197G>T	NP_000194.2:p.Glu399Asp
NR_110313.1:n.1285G>T
XM_006713882.2:c.801G>T	XP_006713945.1:p.Glu267Asp
XM_011513459.1:c.1263G>T	XP_011511761.1:p.Glu421Asp
XM_011513460.1:c.1056G>T	XP_011511762.1:p.Glu352Asp
XM_011513461.1:c.990G>T	XP_011511763.1:p.Glu330Asp
XM_011513462.1:c.909G>T	XP_011511764.1:p.Glu303Asp
XM_011513463.1:c.909G>T	XP_011511765.1:p.Glu303Asp
XR_924947.1:n.1266G>T
NM_000203.5:c.1197G>T MANE Select	NP_000194.2:p.Glu399Asp
NM_001363576.1:c.801G>T	NP_001350505.1:p.Glu267Asp
XM_011513461.2:c.990G>T	XP_011511763.1:p.Glu330Asp
XM_017008163.1:c.237G>T	XP_016863652.1:p.Glu79Asp