Canonical Allele Identifier: CA91170784

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003417C>T , CM000666.2:g.1003417C>T	GRCh38
NC_000004.11:g.997205C>T , CM000666.1:g.997205C>T	GRCh37
NC_000004.10:g.987205C>T	NCBI36
NG_008103.1:g.21421C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1597C>T MANE Select	NP_000194.2:p.Pro533Ser
ENST00000514224.2:c.1597C>T MANE Select	ENSP00000425081.2:p.Pro533Ser
NM_000203.4:c.1597C>T	NP_000194.2:p.Pro533Ser
NM_001363576.1:c.1201C>T	NP_001350505.1:p.Pro401Ser
NR_110313.1:n.1685C>T
ENST00000247933.8:c.1597C>T	ENSP00000247933.4:p.Pro533Ser
ENST00000247933.9:c.1597C>T	ENSP00000247933.4:p.Pro533Ser
ENST00000514224.1:c.1201C>T	ENSP00000425081.1:p.Pro401Ser
ENST00000514698.5:n.1704C>T
ENST00000652070.1:n.1653C>T
XM_006713882.2:c.1201C>T	XP_006713945.1:p.Pro401Ser
XM_011513459.1:c.1663C>T	XP_011511761.1:p.Pro555Ser
XM_011513460.1:c.1456C>T	XP_011511762.1:p.Pro486Ser
XM_011513461.1:c.1390C>T	XP_011511763.1:p.Pro464Ser
XM_011513461.2:c.1390C>T	XP_011511763.1:p.Pro464Ser
XM_011513462.1:c.1309C>T	XP_011511764.1:p.Pro437Ser
XM_011513463.1:c.1309C>T	XP_011511765.1:p.Pro437Ser
XM_017008163.1:c.637C>T	XP_016863652.1:p.Pro213Ser
XR_924947.1:n.1853C>T