Canonical Allele Identifier: CA1433067479

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001558T= , CM000666.2:g.1001558T=	GRCh38
NC_000004.11:g.995346T= , CM000666.1:g.995346T=	GRCh37
NC_000004.10:g.985346T=	NCBI36
NG_008103.1:g.19562T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.584T=	ENSP00000247933.4:p.Met195=
ENST00000514224.2:c.584T= MANE Select	ENSP00000425081.2:p.Met195=
ENST00000652070.1:n.640T=
ENST00000247933.8:c.584T=	ENSP00000247933.4:p.Met195=
ENST00000502910.5:c.443T=	ENSP00000422952.1:p.Met148=
ENST00000504568.5:c.544T=
ENST00000509948.5:c.377T=	ENSP00000424227.1:p.Met126=
ENST00000514192.5:c.401T=	ENSP00000423685.1:p.Met134=
ENST00000514224.1:c.188T=	ENSP00000425081.1:p.Met63=
ENST00000514698.5:n.484T=
NM_000203.4:c.584T=	NP_000194.2:p.Met195=
NR_110313.1:n.672T=
XM_006713882.2:c.188T=	XP_006713945.1:p.Met63=
XM_011513459.1:c.443T=	XP_011511761.1:p.Met148=
XM_011513460.1:c.443T=	XP_011511762.1:p.Met148=
XM_011513461.1:c.377T=	XP_011511763.1:p.Met126=
XM_011513462.1:c.296T=	XP_011511764.1:p.Met99=
XM_011513463.1:c.296T=	XP_011511765.1:p.Met99=
XR_924947.1:n.653T=
NM_000203.5:c.584T= MANE Select	NP_000194.2:p.Met195=
NM_001363576.1:c.188T=	NP_001350505.1:p.Met63=
XM_011513461.2:c.377T=	XP_011511763.1:p.Met126=
XM_017008163.1:c.-405T=	XP_016863652.1:n.-405T=