Canonical Allele Identifier: CA1433066353
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1000785A= , CM000666.2:g.1000785A= GRCh38
NC_000004.11:g.994573A= , CM000666.1:g.994573A= GRCh37
NC_000004.10:g.984573A= NCBI36
NG_008103.1:g.18789A=

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.385+88A= ENSP00000247933.4:n.385+88A=
ENST00000514224.2:c.385+88A= MANE Select ENSP00000425081.2:n.385+88A=
ENST00000652070.1:n.441+88A=
ENST00000247933.8:c.385+88A= ENSP00000247933.4:n.385+88A=
ENST00000502910.5:c.244+88A= ENSP00000422952.1:n.244+88A=
ENST00000504568.5:c.345+88A=
ENST00000506561.5:n.394+88A=
ENST00000508168.5:n.263+88A=
ENST00000509948.5:c.178+88A= ENSP00000424227.1:n.178+88A=
ENST00000514192.5:c.202+88A= ENSP00000423685.1:n.202+88A=
ENST00000514224.1:c.-12+88A= ENSP00000425081.1:n.-12+88A=
ENST00000514698.5:n.285+88A=
NM_000203.4:c.385+88A= NP_000194.2:n.385+88A=
NR_110313.1:n.473+88A=
XM_006713882.2:c.-12+88A= XP_006713945.1:n.-12+88A=
XM_011513459.1:c.244+88A= XP_011511761.1:n.244+88A=
XM_011513460.1:c.244+88A= XP_011511762.1:n.244+88A=
XM_011513461.1:c.178+88A= XP_011511763.1:n.178+88A=
XM_011513462.1:c.1A= XP_011511764.1:p.Met1=
XM_011513463.1:c.1A= XP_011511765.1:p.Met1=
XR_924947.1:n.454+88A=
NM_000203.5:c.385+88A= MANE Select NP_000194.2:n.385+88A=
NM_001363576.1:c.-12+88A= NP_001350505.1:n.-12+88A=
XM_011513461.2:c.178+88A= XP_011511763.1:n.178+88A=
XM_017008163.1:c.-1082+88A= XP_016863652.1:n.-1082+88A=