Canonical Allele Identifier: CA1433068740

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002129G= , CM000666.2:g.1002129G=	GRCh38
NC_000004.11:g.995917G= , CM000666.1:g.995917G=	GRCh37
NC_000004.10:g.985917G=	NCBI36
NG_008103.1:g.20133G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.940G=	ENSP00000247933.4:p.Ala314=
ENST00000514224.2:c.940G= MANE Select	ENSP00000425081.2:p.Ala314=
ENST00000652070.1:n.996G=
ENST00000247933.8:c.940G=	ENSP00000247933.4:p.Ala314=
ENST00000514224.1:c.544G=	ENSP00000425081.1:p.Ala182=
ENST00000514698.5:n.940G=
NM_000203.4:c.940G=	NP_000194.2:p.Ala314=
NR_110313.1:n.1028G=
XM_006713882.2:c.544G=	XP_006713945.1:p.Ala182=
XM_011513459.1:c.899G=	XP_011511761.1:p.Gly300=
XM_011513460.1:c.799G=	XP_011511762.1:p.Ala267=
XM_011513461.1:c.733G=	XP_011511763.1:p.Ala245=
XM_011513462.1:c.652G=	XP_011511764.1:p.Ala218=
XM_011513463.1:c.652G=	XP_011511765.1:p.Ala218=
XR_924947.1:n.1009G=
NM_000203.5:c.940G= MANE Select	NP_000194.2:p.Ala314=
NM_001363576.1:c.544G=	NP_001350505.1:p.Ala182=
XM_011513461.2:c.733G=	XP_011511763.1:p.Ala245=
XM_017008163.1:c.-21G=	XP_016863652.1:n.-21G=