Canonical Allele Identifier: CA2802027

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001689C>G , CM000666.2:g.1001689C>G	GRCh38
NC_000004.11:g.995477C>G , CM000666.1:g.995477C>G	GRCh37
NC_000004.10:g.985477C>G	NCBI36
NG_008103.1:g.19693C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.600C>G MANE Select	NP_000194.2:p.Asn200Lys
ENST00000514224.2:c.600C>G MANE Select	ENSP00000425081.2:p.Asn200Lys
NM_000203.4:c.600C>G	NP_000194.2:p.Asn200Lys
NM_001363576.1:c.204C>G	NP_001350505.1:p.Asn68Lys
NR_110313.1:n.688C>G
ENST00000247933.8:c.600C>G	ENSP00000247933.4:p.Asn200Lys
ENST00000247933.9:c.600C>G	ENSP00000247933.4:p.Asn200Lys
ENST00000502910.5:c.459C>G	ENSP00000422952.1:p.Asn153Lys
ENST00000504568.5:c.560C>G
ENST00000509948.5:c.393C>G	ENSP00000424227.1:p.Asn131Lys
ENST00000514192.5:c.417C>G	ENSP00000423685.1:p.Asn139Lys
ENST00000514224.1:c.204C>G	ENSP00000425081.1:p.Asn68Lys
ENST00000514698.5:n.500C>G
ENST00000652070.1:n.656C>G
XM_006713882.2:c.204C>G	XP_006713945.1:p.Asn68Lys
XM_011513459.1:c.459C>G	XP_011511761.1:p.Asn153Lys
XM_011513460.1:c.459C>G	XP_011511762.1:p.Asn153Lys
XM_011513461.1:c.393C>G	XP_011511763.1:p.Asn131Lys
XM_011513461.2:c.393C>G	XP_011511763.1:p.Asn131Lys
XM_011513462.1:c.312C>G	XP_011511764.1:p.Asn104Lys
XM_011513463.1:c.312C>G	XP_011511765.1:p.Asn104Lys
XM_017008163.1:c.-361C>G	XP_016863652.1:n.-361C>G
XR_924947.1:n.669C>G