Canonical Allele Identifier: CA1433066119
Community Standard Title: NM_000203.5(IDUA):c.314G= (p.Arg105=)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1000626G= , CM000666.2:g.1000626G= GRCh38
NC_000004.11:g.994414G= , CM000666.1:g.994414G= GRCh37
NC_000004.10:g.984414G= NCBI36
NG_008103.1:g.18630G=

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.314G= MANE Select NP_000194.2:p.Arg105=
ENST00000514224.2:c.314G= MANE Select ENSP00000425081.2:p.Arg105=
NM_000203.4:c.314G= NP_000194.2:p.Arg105=
NM_001363576.1:c.-83G= NP_001350505.1:n.-83G=
NR_110313.1:n.402G=
ENST00000247933.8:c.314G= ENSP00000247933.4:p.Arg105=
ENST00000247933.9:c.314G= ENSP00000247933.4:p.Arg105=
ENST00000502910.5:c.173G= ENSP00000422952.1:p.Arg58=
ENST00000504568.5:c.274G=
ENST00000506561.5:n.323G=
ENST00000508168.5:n.192G=
ENST00000509948.5:c.107G= ENSP00000424227.1:p.Arg36=
ENST00000514192.5:c.131G= ENSP00000423685.1:p.Arg44=
ENST00000514224.1:c.-83G= ENSP00000425081.1:n.-83G=
ENST00000514698.5:n.214G=
ENST00000652070.1:n.370G=
XM_006713882.2:c.-83G= XP_006713945.1:n.-83G=
XM_011513459.1:c.173G= XP_011511761.1:p.Arg58=
XM_011513460.1:c.173G= XP_011511762.1:p.Arg58=
XM_011513461.1:c.107G= XP_011511763.1:p.Arg36=
XM_011513461.2:c.107G= XP_011511763.1:p.Arg36=
XM_011513462.1:c.-159G= XP_011511764.1:n.-159G=
XM_011513463.1:c.-159G= XP_011511765.1:n.-159G=
XM_017008163.1:c.-1153G= XP_016863652.1:n.-1153G=
XR_924947.1:n.383G=