Canonical Allele Identifier: CA2802174

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002344A>G , CM000666.2:g.1002344A>G	GRCh38
NC_000004.11:g.996132A>G , CM000666.1:g.996132A>G	GRCh37
NC_000004.10:g.986132A>G	NCBI36
NG_008103.1:g.20348A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1048A>G MANE Select	NP_000194.2:p.Asn350Asp
ENST00000514224.2:c.1048A>G MANE Select	ENSP00000425081.2:p.Asn350Asp
NM_000203.4:c.1048A>G	NP_000194.2:p.Asn350Asp
NM_001363576.1:c.652A>G	NP_001350505.1:p.Asn218Asp
NR_110313.1:n.1136A>G
ENST00000247933.8:c.1048A>G	ENSP00000247933.4:p.Asn350Asp
ENST00000247933.9:c.1048A>G	ENSP00000247933.4:p.Asn350Asp
ENST00000514224.1:c.652A>G	ENSP00000425081.1:p.Asn218Asp
ENST00000514698.5:n.1155A>G
ENST00000652070.1:n.1104A>G
XM_006713882.2:c.652A>G	XP_006713945.1:p.Asn218Asp
XM_011513459.1:c.1114A>G	XP_011511761.1:p.Asn372Asp
XM_011513460.1:c.907A>G	XP_011511762.1:p.Asn303Asp
XM_011513461.1:c.841A>G	XP_011511763.1:p.Asn281Asp
XM_011513461.2:c.841A>G	XP_011511763.1:p.Asn281Asp
XM_011513462.1:c.760A>G	XP_011511764.1:p.Asn254Asp
XM_011513463.1:c.760A>G	XP_011511765.1:p.Asn254Asp
XM_017008163.1:c.88A>G	XP_016863652.1:p.Asn30Asp
XR_924947.1:n.1117A>G