Canonical Allele Identifier: CA355962430
Gene: IDUA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002050C>G , CM000666.2:g.1002050C>G GRCh38
NC_000004.11:g.995838C>G , CM000666.1:g.995838C>G GRCh37
NC_000004.10:g.985838C>G NCBI36
NG_008103.1:g.20054C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.861C>G ENSP00000247933.4:p.Phe287Leu
ENST00000514224.2:c.861C>G MANE Select ENSP00000425081.2:p.Phe287Leu
ENST00000652070.1:n.917C>G
ENST00000247933.8:c.861C>G ENSP00000247933.4:p.Phe287Leu
ENST00000514192.5:c.678C>G ENSP00000423685.1:p.Phe226Leu
ENST00000514224.1:c.465C>G ENSP00000425081.1:p.Phe155Leu
ENST00000514698.5:n.861C>G
NM_000203.4:c.861C>G NP_000194.2:p.Phe287Leu
NR_110313.1:n.949C>G
XM_006713882.2:c.465C>G XP_006713945.1:p.Phe155Leu
XM_011513459.1:c.820C>G XP_011511761.1:p.Pro274Ala
XM_011513460.1:c.720C>G XP_011511762.1:p.Phe240Leu
XM_011513461.1:c.654C>G XP_011511763.1:p.Phe218Leu
XM_011513462.1:c.573C>G XP_011511764.1:p.Phe191Leu
XM_011513463.1:c.573C>G XP_011511765.1:p.Phe191Leu
XR_924947.1:n.930C>G
NM_000203.5:c.861C>G MANE Select NP_000194.2:p.Phe287Leu
NM_001363576.1:c.465C>G NP_001350505.1:p.Phe155Leu
XM_011513461.2:c.654C>G XP_011511763.1:p.Phe218Leu
XM_017008163.1:c.-100C>G XP_016863652.1:n.-100C>G