Canonical Allele Identifier: CA91170412
Community Standard Title: NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003120C>T , CM000666.2:g.1003120C>T GRCh38
NC_000004.11:g.996908C>T , CM000666.1:g.996908C>T GRCh37
NC_000004.10:g.986908C>T NCBI36
NG_008103.1:g.21124C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1487C>T MANE Select NP_000194.2:p.Pro496Leu
ENST00000514224.2:c.1487C>T MANE Select ENSP00000425081.2:p.Pro496Leu
NM_000203.4:c.1487C>T NP_000194.2:p.Pro496Leu
NM_001363576.1:c.1091C>T NP_001350505.1:p.Pro364Leu
NR_110313.1:n.1575C>T
ENST00000247933.8:c.1487C>T ENSP00000247933.4:p.Pro496Leu
ENST00000247933.9:c.1487C>T ENSP00000247933.4:p.Pro496Leu
ENST00000502829.1:n.289C>T
ENST00000514224.1:c.1091C>T ENSP00000425081.1:p.Pro364Leu
ENST00000514698.5:n.1594C>T
ENST00000652070.1:n.1543C>T
XM_006713882.2:c.1091C>T XP_006713945.1:p.Pro364Leu
XM_011513459.1:c.1553C>T XP_011511761.1:p.Pro518Leu
XM_011513460.1:c.1346C>T XP_011511762.1:p.Pro449Leu
XM_011513461.1:c.1280C>T XP_011511763.1:p.Pro427Leu
XM_011513461.2:c.1280C>T XP_011511763.1:p.Pro427Leu
XM_011513462.1:c.1199C>T XP_011511764.1:p.Pro400Leu
XM_011513463.1:c.1199C>T XP_011511765.1:p.Pro400Leu
XM_017008163.1:c.527C>T XP_016863652.1:p.Pro176Leu
XR_924947.1:n.1556C>T