Canonical Allele Identifier: CA355963563

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002752G>T , CM000666.2:g.1002752G>T	GRCh38
NC_000004.11:g.996540G>T , CM000666.1:g.996540G>T	GRCh37
NC_000004.10:g.986540G>T	NCBI36
NG_008103.1:g.20756G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1210G>T MANE Select	NP_000194.2:p.Glu404Ter
ENST00000514224.2:c.1210G>T MANE Select	ENSP00000425081.2:p.Glu404Ter
NM_000203.4:c.1210G>T	NP_000194.2:p.Glu404Ter
NM_001363576.1:c.814G>T	NP_001350505.1:p.Glu272Ter
NR_110313.1:n.1298G>T
ENST00000247933.8:c.1210G>T	ENSP00000247933.4:p.Glu404Ter
ENST00000247933.9:c.1210G>T	ENSP00000247933.4:p.Glu404Ter
ENST00000502829.1:n.12G>T
ENST00000514224.1:c.814G>T	ENSP00000425081.1:p.Glu272Ter
ENST00000514698.5:n.1317G>T
ENST00000652070.1:n.1266G>T
XM_006713882.2:c.814G>T	XP_006713945.1:p.Glu272Ter
XM_011513459.1:c.1276G>T	XP_011511761.1:p.Glu426Ter
XM_011513460.1:c.1069G>T	XP_011511762.1:p.Glu357Ter
XM_011513461.1:c.1003G>T	XP_011511763.1:p.Glu335Ter
XM_011513461.2:c.1003G>T	XP_011511763.1:p.Glu335Ter
XM_011513462.1:c.922G>T	XP_011511764.1:p.Glu308Ter
XM_011513463.1:c.922G>T	XP_011511765.1:p.Glu308Ter
XM_017008163.1:c.250G>T	XP_016863652.1:p.Glu84Ter
XR_924947.1:n.1279G>T