Canonical Allele Identifier: CA355961199

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000685C>T , CM000666.2:g.1000685C>T	GRCh38
NC_000004.11:g.994473C>T , CM000666.1:g.994473C>T	GRCh37
NC_000004.10:g.984473C>T	NCBI36
NG_008103.1:g.18689C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.373C>T MANE Select	NP_000194.2:p.Gln125Ter
ENST00000514224.2:c.373C>T MANE Select	ENSP00000425081.2:p.Gln125Ter
NM_000203.4:c.373C>T	NP_000194.2:p.Gln125Ter
NM_001363576.1:c.-24C>T	NP_001350505.1:n.-24C>T
NR_110313.1:n.461C>T
ENST00000247933.8:c.373C>T	ENSP00000247933.4:p.Gln125Ter
ENST00000247933.9:c.373C>T	ENSP00000247933.4:p.Gln125Ter
ENST00000502910.5:c.232C>T	ENSP00000422952.1:p.Gln78Ter
ENST00000504568.5:c.333C>T
ENST00000506561.5:n.382C>T
ENST00000508168.5:n.251C>T
ENST00000509948.5:c.166C>T	ENSP00000424227.1:p.Gln56Ter
ENST00000514192.5:c.190C>T	ENSP00000423685.1:p.Gln64Ter
ENST00000514224.1:c.-24C>T	ENSP00000425081.1:n.-24C>T
ENST00000514698.5:n.273C>T
ENST00000652070.1:n.429C>T
XM_006713882.2:c.-24C>T	XP_006713945.1:n.-24C>T
XM_011513459.1:c.232C>T	XP_011511761.1:p.Gln78Ter
XM_011513460.1:c.232C>T	XP_011511762.1:p.Gln78Ter
XM_011513461.1:c.166C>T	XP_011511763.1:p.Gln56Ter
XM_011513461.2:c.166C>T	XP_011511763.1:p.Gln56Ter
XM_011513462.1:c.-100C>T	XP_011511764.1:n.-100C>T
XM_011513463.1:c.-100C>T	XP_011511765.1:n.-100C>T
XM_017008163.1:c.-1094C>T	XP_016863652.1:n.-1094C>T
XR_924947.1:n.442C>T