Canonical Allele Identifier: CA355963028
Gene: IDUA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002304C>A , CM000666.2:g.1002304C>A GRCh38
NC_000004.11:g.996092C>A , CM000666.1:g.996092C>A GRCh37
NC_000004.10:g.986092C>A NCBI36
NG_008103.1:g.20308C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.1008C>A ENSP00000247933.4:p.Asn336Lys
ENST00000514224.2:c.1008C>A MANE Select ENSP00000425081.2:p.Asn336Lys
ENST00000652070.1:n.1064C>A
ENST00000247933.8:c.1008C>A ENSP00000247933.4:p.Asn336Lys
ENST00000514224.1:c.612C>A ENSP00000425081.1:p.Asn204Lys
ENST00000514698.5:n.1115C>A
NM_000203.4:c.1008C>A NP_000194.2:p.Asn336Lys
NR_110313.1:n.1096C>A
XM_006713882.2:c.612C>A XP_006713945.1:p.Asn204Lys
XM_011513459.1:c.1074C>A XP_011511761.1:p.Asn358Lys
XM_011513460.1:c.867C>A XP_011511762.1:p.Asn289Lys
XM_011513461.1:c.801C>A XP_011511763.1:p.Asn267Lys
XM_011513462.1:c.720C>A XP_011511764.1:p.Asn240Lys
XM_011513463.1:c.720C>A XP_011511765.1:p.Asn240Lys
XR_924947.1:n.1077C>A
NM_000203.5:c.1008C>A MANE Select NP_000194.2:p.Asn336Lys
NM_001363576.1:c.612C>A NP_001350505.1:p.Asn204Lys
XM_011513461.2:c.801C>A XP_011511763.1:p.Asn267Lys
XM_017008163.1:c.48C>A XP_016863652.1:p.Asn16Lys