Canonical Allele Identifier: CA355965249

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997392C>G (hg19) ; chr4:g.1003604C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003604C>G , CM000666.2:g.1003604C>G	GRCh38
NC_000004.11:g.997392C>G , CM000666.1:g.997392C>G	GRCh37
NC_000004.10:g.987392C>G	NCBI36
NG_008103.1:g.21608C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1706C>G	ENSP00000247933.4:p.Ser569Trp
ENST00000514224.2:c.1706C>G MANE Select	ENSP00000425081.2:p.Ser569Trp
ENST00000652070.1:n.1762C>G
ENST00000247933.8:c.1706C>G	ENSP00000247933.4:p.Ser569Trp
ENST00000514224.1:c.1310C>G	ENSP00000425081.1:p.Ser437Trp
ENST00000514417.1:n.98C>G
ENST00000514698.5:n.1813C>G
NM_000203.4:c.1706C>G	NP_000194.2:p.Ser569Trp
NR_110313.1:n.1794C>G
XM_006713882.2:c.1310C>G	XP_006713945.1:p.Ser437Trp
XM_011513459.1:c.1772C>G	XP_011511761.1:p.Ser591Trp
XM_011513460.1:c.1565C>G	XP_011511762.1:p.Ser522Trp
XM_011513461.1:c.1499C>G	XP_011511763.1:p.Ser500Trp
XM_011513462.1:c.1418C>G	XP_011511764.1:p.Ser473Trp
XM_011513463.1:c.1418C>G	XP_011511765.1:p.Ser473Trp
XR_924947.1:n.1962C>G
NM_000203.5:c.1706C>G MANE Select	NP_000194.2:p.Ser569Trp
NM_001363576.1:c.1310C>G	NP_001350505.1:p.Ser437Trp
XM_011513461.2:c.1499C>G	XP_011511763.1:p.Ser500Trp
XM_017008163.1:c.746C>G	XP_016863652.1:p.Ser249Trp