Canonical Allele Identifier: CA2801986
Community Standard Title: NM_000203.5(IDUA):c.536C>T (p.Thr179Met)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001510C>T , CM000666.2:g.1001510C>T GRCh38
NC_000004.11:g.995298C>T , CM000666.1:g.995298C>T GRCh37
NC_000004.10:g.985298C>T NCBI36
NG_008103.1:g.19514C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.536C>T MANE Select NP_000194.2:p.Thr179Met
ENST00000514224.2:c.536C>T MANE Select ENSP00000425081.2:p.Thr179Met
NM_000203.4:c.536C>T NP_000194.2:p.Thr179Met
NM_001363576.1:c.140C>T NP_001350505.1:p.Thr47Met
NR_110313.1:n.624C>T
ENST00000247933.8:c.536C>T ENSP00000247933.4:p.Thr179Met
ENST00000247933.9:c.536C>T ENSP00000247933.4:p.Thr179Met
ENST00000502910.5:c.395C>T ENSP00000422952.1:p.Thr132Met
ENST00000504568.5:c.496C>T
ENST00000509948.5:c.329C>T ENSP00000424227.1:p.Thr110Met
ENST00000514192.5:c.353C>T ENSP00000423685.1:p.Thr118Met
ENST00000514224.1:c.140C>T ENSP00000425081.1:p.Thr47Met
ENST00000514698.5:n.436C>T
ENST00000652070.1:n.592C>T
XM_006713882.2:c.140C>T XP_006713945.1:p.Thr47Met
XM_011513459.1:c.395C>T XP_011511761.1:p.Thr132Met
XM_011513460.1:c.395C>T XP_011511762.1:p.Thr132Met
XM_011513461.1:c.329C>T XP_011511763.1:p.Thr110Met
XM_011513461.2:c.329C>T XP_011511763.1:p.Thr110Met
XM_011513462.1:c.248C>T XP_011511764.1:p.Thr83Met
XM_011513463.1:c.248C>T XP_011511765.1:p.Thr83Met
XM_017008163.1:c.-453C>T XP_016863652.1:n.-453C>T
XR_924947.1:n.605C>T