Canonical Allele Identifier: CA438058012

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997351C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003563C>G , CM000666.2:g.1003563C>G	GRCh38
NC_000004.11:g.997351C>G , CM000666.1:g.997351C>G	GRCh37
NC_000004.10:g.987351C>G	NCBI36
NG_008103.1:g.21567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1665C>G	ENSP00000247933.4:p.Arg555=
ENST00000514224.2:c.1665C>G MANE Select	ENSP00000425081.2:p.Arg555=
ENST00000652070.1:n.1721C>G
ENST00000247933.8:c.1665C>G	ENSP00000247933.4:p.Arg555=
ENST00000514224.1:c.1269C>G	ENSP00000425081.1:p.Arg423=
ENST00000514417.1:n.57C>G
ENST00000514698.5:n.1772C>G
NM_000203.4:c.1665C>G	NP_000194.2:p.Arg555=
NR_110313.1:n.1753C>G
XM_006713882.2:c.1269C>G	XP_006713945.1:p.Arg423=
XM_011513459.1:c.1731C>G	XP_011511761.1:p.Arg577=
XM_011513460.1:c.1524C>G	XP_011511762.1:p.Arg508=
XM_011513461.1:c.1458C>G	XP_011511763.1:p.Arg486=
XM_011513462.1:c.1377C>G	XP_011511764.1:p.Arg459=
XM_011513463.1:c.1377C>G	XP_011511765.1:p.Arg459=
XR_924947.1:n.1921C>G
NM_000203.5:c.1665C>G MANE Select	NP_000194.2:p.Arg555=
NM_001363576.1:c.1269C>G	NP_001350505.1:p.Arg423=
XM_011513461.2:c.1458C>G	XP_011511763.1:p.Arg486=
XM_017008163.1:c.705C>G	XP_016863652.1:p.Arg235=