Canonical Allele Identifier: CA256115

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002117C>T , CM000666.2:g.1002117C>T	GRCh38
NC_000004.11:g.995905C>T , CM000666.1:g.995905C>T	GRCh37
NC_000004.10:g.985905C>T	NCBI36
NG_008103.1:g.20121C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.928C>T MANE Select	NP_000194.2:p.Gln310Ter
ENST00000514224.2:c.928C>T MANE Select	ENSP00000425081.2:p.Gln310Ter
NM_000203.4:c.928C>T	NP_000194.2:p.Gln310Ter
NM_001363576.1:c.532C>T	NP_001350505.1:p.Gln178Ter
NR_110313.1:n.1016C>T
ENST00000247933.8:c.928C>T	ENSP00000247933.4:p.Gln310Ter
ENST00000247933.9:c.928C>T	ENSP00000247933.4:p.Gln310Ter
ENST00000514224.1:c.532C>T	ENSP00000425081.1:p.Gln178Ter
ENST00000514698.5:n.928C>T
ENST00000652070.1:n.984C>T
XM_006713882.2:c.532C>T	XP_006713945.1:p.Gln178Ter
XM_011513459.1:c.887C>T	XP_011511761.1:p.Thr296Ile
XM_011513460.1:c.787C>T	XP_011511762.1:p.Gln263Ter
XM_011513461.1:c.721C>T	XP_011511763.1:p.Gln241Ter
XM_011513461.2:c.721C>T	XP_011511763.1:p.Gln241Ter
XM_011513462.1:c.640C>T	XP_011511764.1:p.Gln214Ter
XM_011513463.1:c.640C>T	XP_011511765.1:p.Gln214Ter
XM_017008163.1:c.-33C>T	XP_016863652.1:n.-33C>T
XR_924947.1:n.997C>T