Canonical Allele Identifier: CA1433068607

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002069C= , CM000666.2:g.1002069C=	GRCh38
NC_000004.11:g.995857C= , CM000666.1:g.995857C=	GRCh37
NC_000004.10:g.985857C=	NCBI36
NG_008103.1:g.20073C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.880C=	ENSP00000247933.4:p.Pro294=
ENST00000514224.2:c.880C= MANE Select	ENSP00000425081.2:p.Pro294=
ENST00000652070.1:n.936C=
ENST00000247933.8:c.880C=	ENSP00000247933.4:p.Pro294=
ENST00000514192.5:c.697C=
ENST00000514224.1:c.484C=	ENSP00000425081.1:p.Pro162=
ENST00000514698.5:n.880C=
NM_000203.4:c.880C=	NP_000194.2:p.Pro294=
NR_110313.1:n.968C=
XM_006713882.2:c.484C=	XP_006713945.1:p.Pro162=
XM_011513459.1:c.839C=	XP_011511761.1:p.Pro280=
XM_011513460.1:c.739C=	XP_011511762.1:p.Pro247=
XM_011513461.1:c.673C=	XP_011511763.1:p.Pro225=
XM_011513462.1:c.592C=	XP_011511764.1:p.Pro198=
XM_011513463.1:c.592C=	XP_011511765.1:p.Pro198=
XR_924947.1:n.949C=
NM_000203.5:c.880C= MANE Select	NP_000194.2:p.Pro294=
NM_001363576.1:c.484C=	NP_001350505.1:p.Pro162=
XM_011513461.2:c.673C=	XP_011511763.1:p.Pro225=
XM_017008163.1:c.-81C=	XP_016863652.1:n.-81C=