Canonical Allele Identifier: CA1433067230
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001414A= , CM000666.2:g.1001414A= GRCh38
NC_000004.11:g.995202A= , CM000666.1:g.995202A= GRCh37
NC_000004.10:g.985202A= NCBI36
NG_008103.1:g.19418A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.494-54A= ENSP00000247933.4:n.494-54A=
ENST00000514224.2:c.494-54A= MANE Select ENSP00000425081.2:n.494-54A=
ENST00000652070.1:n.550-54A=
ENST00000247933.8:c.494-54A= ENSP00000247933.4:n.494-54A=
ENST00000502910.5:c.353-54A= ENSP00000422952.1:n.353-54A=
ENST00000504568.5:c.454-54A=
ENST00000509948.5:c.287-54A= ENSP00000424227.1:n.287-54A=
ENST00000514192.5:c.311-54A= ENSP00000423685.1:n.311-54A=
ENST00000514224.1:c.98-54A= ENSP00000425081.1:n.98-54A=
ENST00000514698.5:n.394-54A=
NM_000203.4:c.494-54A= NP_000194.2:n.494-54A=
NR_110313.1:n.582-54A=
XM_006713882.2:c.98-54A= XP_006713945.1:n.98-54A=
XM_011513459.1:c.353-54A= XP_011511761.1:n.353-54A=
XM_011513460.1:c.353-54A= XP_011511762.1:n.353-54A=
XM_011513461.1:c.287-54A= XP_011511763.1:n.287-54A=
XM_011513462.1:c.206-54A= XP_011511764.1:n.206-54A=
XM_011513463.1:c.206-54A= XP_011511765.1:n.206-54A=
XR_924947.1:n.563-54A=
NM_000203.5:c.494-54A= MANE Select NP_000194.2:n.494-54A=
NM_001363576.1:c.98-54A= NP_001350505.1:n.98-54A=
XM_011513461.2:c.287-54A= XP_011511763.1:n.287-54A=
XM_017008163.1:c.-549A= XP_016863652.1:n.-549A=