Canonical Allele Identifier: CA1433069139

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002333T= , CM000666.2:g.1002333T=	GRCh38
NC_000004.11:g.996121T= , CM000666.1:g.996121T=	GRCh37
NC_000004.10:g.986121T=	NCBI36
NG_008103.1:g.20337T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1037T= MANE Select	NP_000194.2:p.Leu346=
ENST00000514224.2:c.1037T= MANE Select	ENSP00000425081.2:p.Leu346=
NM_000203.4:c.1037T=	NP_000194.2:p.Leu346=
NM_001363576.1:c.641T=	NP_001350505.1:p.Leu214=
NR_110313.1:n.1125T=
ENST00000247933.8:c.1037T=	ENSP00000247933.4:p.Leu346=
ENST00000247933.9:c.1037T=	ENSP00000247933.4:p.Leu346=
ENST00000514224.1:c.641T=	ENSP00000425081.1:p.Leu214=
ENST00000514698.5:n.1144T=
ENST00000652070.1:n.1093T=
XM_006713882.2:c.641T=	XP_006713945.1:p.Leu214=
XM_011513459.1:c.1103T=	XP_011511761.1:p.Leu368=
XM_011513460.1:c.896T=	XP_011511762.1:p.Leu299=
XM_011513461.1:c.830T=	XP_011511763.1:p.Leu277=
XM_011513461.2:c.830T=	XP_011511763.1:p.Leu277=
XM_011513462.1:c.749T=	XP_011511764.1:p.Leu250=
XM_011513463.1:c.749T=	XP_011511765.1:p.Leu250=
XM_017008163.1:c.77T=	XP_016863652.1:p.Leu26=
XR_924947.1:n.1106T=