Canonical Allele Identifier: CA549265042
Community Standard Title: NM_000203.5(IDUA):c.300-3C>G
Gene: IDUA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1000609C>G , CM000666.2:g.1000609C>G GRCh38
NC_000004.11:g.994397C>G , CM000666.1:g.994397C>G GRCh37
NC_000004.10:g.984397C>G NCBI36
NG_008103.1:g.18613C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.300-3C>G MANE Select NP_000194.2:n.300-3C>G
ENST00000514224.2:c.300-3C>G MANE Select ENSP00000425081.2:n.300-3C>G
NM_000203.4:c.300-3C>G NP_000194.2:n.300-3C>G
NM_001363576.1:c.-97-3C>G NP_001350505.1:n.-97-3C>G
NR_110313.1:n.388-3C>G
ENST00000247933.8:c.300-3C>G ENSP00000247933.4:n.300-3C>G
ENST00000247933.9:c.300-3C>G ENSP00000247933.4:n.300-3C>G
ENST00000502910.5:c.159-3C>G ENSP00000422952.1:n.159-3C>G
ENST00000504568.5:c.260-3C>G
ENST00000506561.5:n.309-3C>G
ENST00000508168.5:n.178-3C>G
ENST00000509948.5:c.93-3C>G ENSP00000424227.1:n.93-3C>G
ENST00000514192.5:c.117-3C>G ENSP00000423685.1:n.117-3C>G
ENST00000514224.1:c.-97-3C>G ENSP00000425081.1:n.-97-3C>G
ENST00000514698.5:n.200-3C>G
ENST00000652070.1:n.356-3C>G
XM_006713882.2:c.-97-3C>G XP_006713945.1:n.-97-3C>G
XM_011513459.1:c.159-3C>G XP_011511761.1:n.159-3C>G
XM_011513460.1:c.159-3C>G XP_011511762.1:n.159-3C>G
XM_011513461.1:c.93-3C>G XP_011511763.1:n.93-3C>G
XM_011513461.2:c.93-3C>G XP_011511763.1:n.93-3C>G
XM_011513462.1:c.-173-3C>G XP_011511764.1:n.-173-3C>G
XM_011513463.1:c.-173-3C>G XP_011511765.1:n.-173-3C>G
XM_017008163.1:c.-1167-3C>G XP_016863652.1:n.-1167-3C>G
XR_924947.1:n.369-3C>G
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