Canonical Allele Identifier: CA1433068796

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002151T= , CM000666.2:g.1002151T=	GRCh38
NC_000004.11:g.995939T= , CM000666.1:g.995939T=	GRCh37
NC_000004.10:g.985939T=	NCBI36
NG_008103.1:g.20155T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.962T=	ENSP00000247933.4:p.Met321=
ENST00000514224.2:c.962T= MANE Select	ENSP00000425081.2:p.Met321=
ENST00000652070.1:n.1018T=
ENST00000247933.8:c.962T=	ENSP00000247933.4:p.Met321=
ENST00000514224.1:c.566T=	ENSP00000425081.1:p.Met189=
ENST00000514698.5:n.962T=
NM_000203.4:c.962T=	NP_000194.2:p.Met321=
NR_110313.1:n.1050T=
XM_006713882.2:c.566T=	XP_006713945.1:p.Met189=
XM_011513459.1:c.921T=	XP_011511761.1:p.His307=
XM_011513460.1:c.821T=	XP_011511762.1:p.Met274=
XM_011513461.1:c.755T=	XP_011511763.1:p.Met252=
XM_011513462.1:c.674T=	XP_011511764.1:p.Met225=
XM_011513463.1:c.674T=	XP_011511765.1:p.Met225=
XR_924947.1:n.1031T=
NM_000203.5:c.962T= MANE Select	NP_000194.2:p.Met321=
NM_001363576.1:c.566T=	NP_001350505.1:p.Met189=
XM_011513461.2:c.755T=	XP_011511763.1:p.Met252=
XM_017008163.1:c.2T=	XP_016863652.1:p.Met1=