Canonical Allele Identifier: CA1433069037

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002291T= , CM000666.2:g.1002291T=	GRCh38
NC_000004.11:g.996079T= , CM000666.1:g.996079T=	GRCh37
NC_000004.10:g.986079T=	NCBI36
NG_008103.1:g.20295T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.995T=	ENSP00000247933.4:p.Leu332=
ENST00000514224.2:c.995T= MANE Select	ENSP00000425081.2:p.Leu332=
ENST00000652070.1:n.1051T=
ENST00000247933.8:c.995T=	ENSP00000247933.4:p.Leu332=
ENST00000514224.1:c.599T=	ENSP00000425081.1:p.Leu200=
ENST00000514698.5:n.1102T=
NM_000203.4:c.995T=	NP_000194.2:p.Leu332=
NR_110313.1:n.1083T=
XM_006713882.2:c.599T=	XP_006713945.1:p.Leu200=
XM_011513459.1:c.1061T=	XP_011511761.1:p.Leu354=
XM_011513460.1:c.854T=	XP_011511762.1:p.Leu285=
XM_011513461.1:c.788T=	XP_011511763.1:p.Leu263=
XM_011513462.1:c.707T=	XP_011511764.1:p.Leu236=
XM_011513463.1:c.707T=	XP_011511765.1:p.Leu236=
XR_924947.1:n.1064T=
NM_000203.5:c.995T= MANE Select	NP_000194.2:p.Leu332=
NM_001363576.1:c.599T=	NP_001350505.1:p.Leu200=
XM_011513461.2:c.788T=	XP_011511763.1:p.Leu263=
XM_017008163.1:c.35T=	XP_016863652.1:p.Leu12=