Canonical Allele Identifier: CA145883
Community Standard Title: NM_000203.5(IDUA):c.352C>T (p.Leu118=)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1000664C>T , CM000666.2:g.1000664C>T GRCh38
NC_000004.11:g.994452C>T , CM000666.1:g.994452C>T GRCh37
NC_000004.10:g.984452C>T NCBI36
NG_008103.1:g.18668C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.352C>T MANE Select NP_000194.2:p.Leu118=
ENST00000514224.2:c.352C>T MANE Select ENSP00000425081.2:p.Leu118=
NM_000203.4:c.352C>T NP_000194.2:p.Leu118=
NM_001363576.1:c.-45C>T NP_001350505.1:n.-45C>T
NR_110313.1:n.440C>T
ENST00000247933.8:c.352C>T ENSP00000247933.4:p.Leu118=
ENST00000247933.9:c.352C>T ENSP00000247933.4:p.Leu118=
ENST00000502910.5:c.211C>T ENSP00000422952.1:p.Leu71=
ENST00000504568.5:c.312C>T
ENST00000506561.5:n.361C>T
ENST00000508168.5:n.230C>T
ENST00000509948.5:c.145C>T ENSP00000424227.1:p.Leu49=
ENST00000514192.5:c.169C>T ENSP00000423685.1:p.Leu57=
ENST00000514224.1:c.-45C>T ENSP00000425081.1:n.-45C>T
ENST00000514698.5:n.252C>T
ENST00000652070.1:n.408C>T
XM_006713882.2:c.-45C>T XP_006713945.1:n.-45C>T
XM_011513459.1:c.211C>T XP_011511761.1:p.Leu71=
XM_011513460.1:c.211C>T XP_011511762.1:p.Leu71=
XM_011513461.1:c.145C>T XP_011511763.1:p.Leu49=
XM_011513461.2:c.145C>T XP_011511763.1:p.Leu49=
XM_011513462.1:c.-121C>T XP_011511764.1:n.-121C>T
XM_011513463.1:c.-121C>T XP_011511765.1:n.-121C>T
XM_017008163.1:c.-1115C>T XP_016863652.1:n.-1115C>T
XR_924947.1:n.421C>T