Canonical Allele Identifier: CA2669479156
Gene: IDUA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001577C>T , CM000666.2:g.1001577C>T GRCh38
NC_000004.11:g.995365C>T , CM000666.1:g.995365C>T GRCh37
NC_000004.10:g.985365C>T NCBI36
NG_008103.1:g.19581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.589+14C>T ENSP00000247933.4:n.589+14C>T
ENST00000514224.2:c.589+14C>T MANE Select ENSP00000425081.2:n.589+14C>T
ENST00000652070.1:n.645+14C>T
ENST00000247933.8:c.589+14C>T ENSP00000247933.4:n.589+14C>T
ENST00000502910.5:c.448+14C>T ENSP00000422952.1:n.448+14C>T
ENST00000504568.5:c.549+14C>T
ENST00000509948.5:c.382+14C>T ENSP00000424227.1:n.382+14C>T
ENST00000514192.5:c.406+14C>T ENSP00000423685.1:n.406+14C>T
ENST00000514224.1:c.193+14C>T ENSP00000425081.1:n.193+14C>T
ENST00000514698.5:n.489+14C>T
NM_000203.4:c.589+14C>T NP_000194.2:n.589+14C>T
NR_110313.1:n.677+14C>T
XM_006713882.2:c.193+14C>T XP_006713945.1:n.193+14C>T
XM_011513459.1:c.448+14C>T XP_011511761.1:n.448+14C>T
XM_011513460.1:c.448+14C>T XP_011511762.1:n.448+14C>T
XM_011513461.1:c.382+14C>T XP_011511763.1:n.382+14C>T
XM_011513462.1:c.301+14C>T XP_011511764.1:n.301+14C>T
XM_011513463.1:c.301+14C>T XP_011511765.1:n.301+14C>T
XR_924947.1:n.658+14C>T
NM_000203.5:c.589+14C>T MANE Select NP_000194.2:n.589+14C>T
NM_001363576.1:c.193+14C>T NP_001350505.1:n.193+14C>T
XM_011513461.2:c.382+14C>T XP_011511763.1:n.382+14C>T
XM_017008163.1:c.-400+14C>T XP_016863652.1:n.-400+14C>T
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