Canonical Allele Identifier: CA355962978
Gene: IDUA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002288A>C , CM000666.2:g.1002288A>C GRCh38
NC_000004.11:g.996076A>C , CM000666.1:g.996076A>C GRCh37
NC_000004.10:g.986076A>C NCBI36
NG_008103.1:g.20292A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.992A>C ENSP00000247933.4:p.Asn331Thr
ENST00000514224.2:c.992A>C MANE Select ENSP00000425081.2:p.Asn331Thr
ENST00000652070.1:n.1048A>C
ENST00000247933.8:c.992A>C ENSP00000247933.4:p.Asn331Thr
ENST00000514224.1:c.596A>C ENSP00000425081.1:p.Asn199Thr
ENST00000514698.5:n.1099A>C
NM_000203.4:c.992A>C NP_000194.2:p.Asn331Thr
NR_110313.1:n.1080A>C
XM_006713882.2:c.596A>C XP_006713945.1:p.Asn199Thr
XM_011513459.1:c.1058A>C XP_011511761.1:p.Asn353Thr
XM_011513460.1:c.851A>C XP_011511762.1:p.Asn284Thr
XM_011513461.1:c.785A>C XP_011511763.1:p.Asn262Thr
XM_011513462.1:c.704A>C XP_011511764.1:p.Asn235Thr
XM_011513463.1:c.704A>C XP_011511765.1:p.Asn235Thr
XR_924947.1:n.1061A>C
NM_000203.5:c.992A>C MANE Select NP_000194.2:p.Asn331Thr
NM_001363576.1:c.596A>C NP_001350505.1:p.Asn199Thr
XM_011513461.2:c.785A>C XP_011511763.1:p.Asn262Thr
XM_017008163.1:c.32A>C XP_016863652.1:p.Asn11Thr