Canonical Allele Identifier: CA355966009

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004329C>A , CM000666.2:g.1004329C>A	GRCh38
NC_000004.11:g.998117C>A , CM000666.1:g.998117C>A	GRCh37
NC_000004.10:g.988117C>A	NCBI36
NG_008103.1:g.22333C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1898C>A MANE Select	NP_000194.2:p.Ser633Ter
ENST00000514224.2:c.1898C>A MANE Select	ENSP00000425081.2:p.Ser633Ter
NM_000203.4:c.1898C>A	NP_000194.2:p.Ser633Ter
NM_001363576.1:c.1502C>A	NP_001350505.1:p.Ser501Ter
NR_110313.1:n.1990C>A
ENST00000247933.8:c.1898C>A	ENSP00000247933.4:p.Ser633Ter
ENST00000247933.9:c.1898C>A	ENSP00000247933.4:p.Ser633Ter
ENST00000514224.1:c.1502C>A	ENSP00000425081.1:p.Ser501Ter
ENST00000514698.5:n.2009C>A
ENST00000652070.1:n.1954C>A
XM_006713882.2:c.1502C>A	XP_006713945.1:p.Ser501Ter
XM_011513459.1:c.1964C>A	XP_011511761.1:p.Ser655Ter
XM_011513460.1:c.1757C>A	XP_011511762.1:p.Ser586Ter
XM_011513461.1:c.1691C>A	XP_011511763.1:p.Ser564Ter
XM_011513461.2:c.1691C>A	XP_011511763.1:p.Ser564Ter
XM_011513462.1:c.1610C>A	XP_011511764.1:p.Ser537Ter
XM_011513463.1:c.1610C>A	XP_011511765.1:p.Ser537Ter
XM_017008163.1:c.938C>A	XP_016863652.1:p.Ser313Ter
XR_924947.1:n.2158C>A