Canonical Allele Identifier: CA355965038

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003423C>T , CM000666.2:g.1003423C>T	GRCh38
NC_000004.11:g.997211C>T , CM000666.1:g.997211C>T	GRCh37
NC_000004.10:g.987211C>T	NCBI36
NG_008103.1:g.21427C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1603C>T MANE Select	NP_000194.2:p.Leu535Phe
ENST00000514224.2:c.1603C>T MANE Select	ENSP00000425081.2:p.Leu535Phe
NM_000203.4:c.1603C>T	NP_000194.2:p.Leu535Phe
NM_001363576.1:c.1207C>T	NP_001350505.1:p.Leu403Phe
NR_110313.1:n.1691C>T
ENST00000247933.8:c.1603C>T	ENSP00000247933.4:p.Leu535Phe
ENST00000247933.9:c.1603C>T	ENSP00000247933.4:p.Leu535Phe
ENST00000514224.1:c.1207C>T	ENSP00000425081.1:p.Leu403Phe
ENST00000514698.5:n.1710C>T
ENST00000652070.1:n.1659C>T
XM_006713882.2:c.1207C>T	XP_006713945.1:p.Leu403Phe
XM_011513459.1:c.1669C>T	XP_011511761.1:p.Leu557Phe
XM_011513460.1:c.1462C>T	XP_011511762.1:p.Leu488Phe
XM_011513461.1:c.1396C>T	XP_011511763.1:p.Leu466Phe
XM_011513461.2:c.1396C>T	XP_011511763.1:p.Leu466Phe
XM_011513462.1:c.1315C>T	XP_011511764.1:p.Leu439Phe
XM_011513463.1:c.1315C>T	XP_011511765.1:p.Leu439Phe
XM_017008163.1:c.643C>T	XP_016863652.1:p.Leu215Phe
XR_924947.1:n.1859C>T