Canonical Allele Identifier: CA438057791

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002349C>G , CM000666.2:g.1002349C>G	GRCh38
NC_000004.11:g.996137C>G , CM000666.1:g.996137C>G	GRCh37
NC_000004.10:g.986137C>G	NCBI36
NG_008103.1:g.20353C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1053C>G MANE Select	NP_000194.2:p.Ala351=
ENST00000514224.2:c.1053C>G MANE Select	ENSP00000425081.2:p.Ala351=
NM_000203.4:c.1053C>G	NP_000194.2:p.Ala351=
NM_001363576.1:c.657C>G	NP_001350505.1:p.Ala219=
NR_110313.1:n.1141C>G
ENST00000247933.8:c.1053C>G	ENSP00000247933.4:p.Ala351=
ENST00000247933.9:c.1053C>G	ENSP00000247933.4:p.Ala351=
ENST00000514224.1:c.657C>G	ENSP00000425081.1:p.Ala219=
ENST00000514698.5:n.1160C>G
ENST00000652070.1:n.1109C>G
XM_006713882.2:c.657C>G	XP_006713945.1:p.Ala219=
XM_011513459.1:c.1119C>G	XP_011511761.1:p.Ala373=
XM_011513460.1:c.912C>G	XP_011511762.1:p.Ala304=
XM_011513461.1:c.846C>G	XP_011511763.1:p.Ala282=
XM_011513461.2:c.846C>G	XP_011511763.1:p.Ala282=
XM_011513462.1:c.765C>G	XP_011511764.1:p.Ala255=
XM_011513463.1:c.765C>G	XP_011511765.1:p.Ala255=
XM_017008163.1:c.93C>G	XP_016863652.1:p.Ala31=
XR_924947.1:n.1122C>G