Canonical Allele Identifier: CA1433070176

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002764G= , CM000666.2:g.1002764G=	GRCh38
NC_000004.11:g.996552G= , CM000666.1:g.996552G=	GRCh37
NC_000004.10:g.986552G=	NCBI36
NG_008103.1:g.20768G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1222G=	ENSP00000247933.4:p.Ala408=
ENST00000514224.2:c.1222G= MANE Select	ENSP00000425081.2:p.Ala408=
ENST00000652070.1:n.1278G=
ENST00000247933.8:c.1222G=	ENSP00000247933.4:p.Ala408=
ENST00000502829.1:n.24G=
ENST00000514224.1:c.826G=	ENSP00000425081.1:p.Ala276=
ENST00000514698.5:n.1329G=
NM_000203.4:c.1222G=	NP_000194.2:p.Ala408=
NR_110313.1:n.1310G=
XM_006713882.2:c.826G=	XP_006713945.1:p.Ala276=
XM_011513459.1:c.1288G=	XP_011511761.1:p.Ala430=
XM_011513460.1:c.1081G=	XP_011511762.1:p.Ala361=
XM_011513461.1:c.1015G=	XP_011511763.1:p.Ala339=
XM_011513462.1:c.934G=	XP_011511764.1:p.Ala312=
XM_011513463.1:c.934G=	XP_011511765.1:p.Ala312=
XR_924947.1:n.1291G=
NM_000203.5:c.1222G= MANE Select	NP_000194.2:p.Ala408=
NM_001363576.1:c.826G=	NP_001350505.1:p.Ala276=
XM_011513461.2:c.1015G=	XP_011511763.1:p.Ala339=
XM_017008163.1:c.262G=	XP_016863652.1:p.Ala88=