Canonical Allele Identifier: CA1433071397
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003173A= , CM000666.2:g.1003173A= GRCh38
NC_000004.11:g.996961A= , CM000666.1:g.996961A= GRCh37
NC_000004.10:g.986961A= NCBI36
NG_008103.1:g.21177A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1524+16A= ENSP00000247933.4:n.1524+16A=
ENST00000514224.2:c.1524+16A= MANE Select ENSP00000425081.2:n.1524+16A=
ENST00000652070.1:n.1580+16A=
ENST00000247933.8:c.1524+16A= ENSP00000247933.4:n.1524+16A=
ENST00000502829.1:n.342A=
ENST00000514224.1:c.1128+16A= ENSP00000425081.1:n.1128+16A=
ENST00000514698.5:n.1631+16A=
NM_000203.4:c.1524+16A= NP_000194.2:n.1524+16A=
NR_110313.1:n.1612+16A=
XM_006713882.2:c.1128+16A= XP_006713945.1:n.1128+16A=
XM_011513459.1:c.1590+16A= XP_011511761.1:n.1590+16A=
XM_011513460.1:c.1383+16A= XP_011511762.1:n.1383+16A=
XM_011513461.1:c.1317+16A= XP_011511763.1:n.1317+16A=
XM_011513462.1:c.1236+16A= XP_011511764.1:n.1236+16A=
XM_011513463.1:c.1236+16A= XP_011511765.1:n.1236+16A=
XR_924947.1:n.1609A=
NM_000203.5:c.1524+16A= MANE Select NP_000194.2:n.1524+16A=
NM_001363576.1:c.1128+16A= NP_001350505.1:n.1128+16A=
XM_011513461.2:c.1317+16A= XP_011511763.1:n.1317+16A=
XM_017008163.1:c.564+16A= XP_016863652.1:n.564+16A=