Canonical Allele Identifier: CA2802300
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003397T>C , CM000666.2:g.1003397T>C GRCh38
NC_000004.11:g.997185T>C , CM000666.1:g.997185T>C GRCh37
NC_000004.10:g.987185T>C NCBI36
NG_008103.1:g.21401T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1577T>C MANE Select NP_000194.2:p.Leu526Pro
ENST00000514224.2:c.1577T>C MANE Select ENSP00000425081.2:p.Leu526Pro
NM_000203.4:c.1577T>C NP_000194.2:p.Leu526Pro
NM_001363576.1:c.1181T>C NP_001350505.1:p.Leu394Pro
NR_110313.1:n.1665T>C
ENST00000247933.8:c.1577T>C ENSP00000247933.4:p.Leu526Pro
ENST00000247933.9:c.1577T>C ENSP00000247933.4:p.Leu526Pro
ENST00000514224.1:c.1181T>C ENSP00000425081.1:p.Leu394Pro
ENST00000514698.5:n.1684T>C
ENST00000652070.1:n.1633T>C
XM_006713882.2:c.1181T>C XP_006713945.1:p.Leu394Pro
XM_011513459.1:c.1643T>C XP_011511761.1:p.Leu548Pro
XM_011513460.1:c.1436T>C XP_011511762.1:p.Leu479Pro
XM_011513461.1:c.1370T>C XP_011511763.1:p.Leu457Pro
XM_011513461.2:c.1370T>C XP_011511763.1:p.Leu457Pro
XM_011513462.1:c.1289T>C XP_011511764.1:p.Leu430Pro
XM_011513463.1:c.1289T>C XP_011511765.1:p.Leu430Pro
XM_017008163.1:c.617T>C XP_016863652.1:p.Leu206Pro
XR_924947.1:n.1833T>C