Canonical Allele Identifier: CA2802205
Community Standard Title: NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002444G>A , CM000666.2:g.1002444G>A GRCh38
NC_000004.11:g.996232G>A , CM000666.1:g.996232G>A GRCh37
NC_000004.10:g.986232G>A NCBI36
NG_008103.1:g.20448G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1148G>A MANE Select NP_000194.2:p.Arg383His
ENST00000514224.2:c.1148G>A MANE Select ENSP00000425081.2:p.Arg383His
NM_000203.4:c.1148G>A NP_000194.2:p.Arg383His
NM_001363576.1:c.752G>A NP_001350505.1:p.Arg251His
NR_110313.1:n.1236G>A
ENST00000247933.8:c.1148G>A ENSP00000247933.4:p.Arg383His
ENST00000247933.9:c.1148G>A ENSP00000247933.4:p.Arg383His
ENST00000514224.1:c.752G>A ENSP00000425081.1:p.Arg251His
ENST00000514698.5:n.1255G>A
ENST00000652070.1:n.1204G>A
XM_006713882.2:c.752G>A XP_006713945.1:p.Arg251His
XM_011513459.1:c.1214G>A XP_011511761.1:p.Arg405His
XM_011513460.1:c.1007G>A XP_011511762.1:p.Arg336His
XM_011513461.1:c.941G>A XP_011511763.1:p.Arg314His
XM_011513461.2:c.941G>A XP_011511763.1:p.Arg314His
XM_011513462.1:c.860G>A XP_011511764.1:p.Arg287His
XM_011513463.1:c.860G>A XP_011511765.1:p.Arg287His
XM_017008163.1:c.188G>A XP_016863652.1:p.Arg63His
XR_924947.1:n.1217G>A