Canonical Allele Identifier: CA355965236

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997388T>G (hg19) ; chr4:g.1003600T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003600T>G , CM000666.2:g.1003600T>G	GRCh38
NC_000004.11:g.997388T>G , CM000666.1:g.997388T>G	GRCh37
NC_000004.10:g.987388T>G	NCBI36
NG_008103.1:g.21604T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1702T>G	ENSP00000247933.4:p.Trp568Gly
ENST00000514224.2:c.1702T>G MANE Select	ENSP00000425081.2:p.Trp568Gly
ENST00000652070.1:n.1758T>G
ENST00000247933.8:c.1702T>G	ENSP00000247933.4:p.Trp568Gly
ENST00000514224.1:c.1306T>G	ENSP00000425081.1:p.Trp436Gly
ENST00000514417.1:n.94T>G
ENST00000514698.5:n.1809T>G
NM_000203.4:c.1702T>G	NP_000194.2:p.Trp568Gly
NR_110313.1:n.1790T>G
XM_006713882.2:c.1306T>G	XP_006713945.1:p.Trp436Gly
XM_011513459.1:c.1768T>G	XP_011511761.1:p.Trp590Gly
XM_011513460.1:c.1561T>G	XP_011511762.1:p.Trp521Gly
XM_011513461.1:c.1495T>G	XP_011511763.1:p.Trp499Gly
XM_011513462.1:c.1414T>G	XP_011511764.1:p.Trp472Gly
XM_011513463.1:c.1414T>G	XP_011511765.1:p.Trp472Gly
XR_924947.1:n.1958T>G
NM_000203.5:c.1702T>G MANE Select	NP_000194.2:p.Trp568Gly
NM_001363576.1:c.1306T>G	NP_001350505.1:p.Trp436Gly
XM_011513461.2:c.1495T>G	XP_011511763.1:p.Trp499Gly
XM_017008163.1:c.742T>G	XP_016863652.1:p.Trp248Gly