Canonical Allele Identifier: CA355962511

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002084G>T , CM000666.2:g.1002084G>T	GRCh38
NC_000004.11:g.995872G>T , CM000666.1:g.995872G>T	GRCh37
NC_000004.10:g.985872G>T	NCBI36
NG_008103.1:g.20088G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.895G>T MANE Select	NP_000194.2:p.Glu299Ter
ENST00000514224.2:c.895G>T MANE Select	ENSP00000425081.2:p.Glu299Ter
NM_000203.4:c.895G>T	NP_000194.2:p.Glu299Ter
NM_001363576.1:c.499G>T	NP_001350505.1:p.Glu167Ter
NR_110313.1:n.983G>T
ENST00000247933.8:c.895G>T	ENSP00000247933.4:p.Glu299Ter
ENST00000247933.9:c.895G>T	ENSP00000247933.4:p.Glu299Ter
ENST00000514224.1:c.499G>T	ENSP00000425081.1:p.Glu167Ter
ENST00000514698.5:n.895G>T
ENST00000652070.1:n.951G>T
XM_006713882.2:c.499G>T	XP_006713945.1:p.Glu167Ter
XM_011513459.1:c.854G>T	XP_011511761.1:p.Arg285Leu
XM_011513460.1:c.754G>T	XP_011511762.1:p.Glu252Ter
XM_011513461.1:c.688G>T	XP_011511763.1:p.Glu230Ter
XM_011513461.2:c.688G>T	XP_011511763.1:p.Glu230Ter
XM_011513462.1:c.607G>T	XP_011511764.1:p.Glu203Ter
XM_011513463.1:c.607G>T	XP_011511765.1:p.Glu203Ter
XM_017008163.1:c.-66G>T	XP_016863652.1:n.-66G>T
XR_924947.1:n.964G>T