Canonical Allele Identifier: CA2802462

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004313C>T , CM000666.2:g.1004313C>T	GRCh38
NC_000004.11:g.998101C>T , CM000666.1:g.998101C>T	GRCh37
NC_000004.10:g.988101C>T	NCBI36
NG_008103.1:g.22317C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1882C>T MANE Select	NP_000194.2:p.Arg628Ter
ENST00000514224.2:c.1882C>T MANE Select	ENSP00000425081.2:p.Arg628Ter
NM_000203.4:c.1882C>T	NP_000194.2:p.Arg628Ter
NM_001363576.1:c.1486C>T	NP_001350505.1:p.Arg496Ter
NR_110313.1:n.1974C>T
ENST00000247933.8:c.1882C>T	ENSP00000247933.4:p.Arg628Ter
ENST00000247933.9:c.1882C>T	ENSP00000247933.4:p.Arg628Ter
ENST00000514224.1:c.1486C>T	ENSP00000425081.1:p.Arg496Ter
ENST00000514698.5:n.1993C>T
ENST00000652070.1:n.1938C>T
XM_006713882.2:c.1486C>T	XP_006713945.1:p.Arg496Ter
XM_011513459.1:c.1948C>T	XP_011511761.1:p.Arg650Ter
XM_011513460.1:c.1741C>T	XP_011511762.1:p.Arg581Ter
XM_011513461.1:c.1675C>T	XP_011511763.1:p.Arg559Ter
XM_011513461.2:c.1675C>T	XP_011511763.1:p.Arg559Ter
XM_011513462.1:c.1594C>T	XP_011511764.1:p.Arg532Ter
XM_011513463.1:c.1594C>T	XP_011511765.1:p.Arg532Ter
XM_017008163.1:c.922C>T	XP_016863652.1:p.Arg308Ter
XR_924947.1:n.2142C>T