Canonical Allele Identifier: CA438057305

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2833604
• ClinVar RCV Id: RCV003755627
• gnomAD v4: 4-1001782-C-G
• MyVariant Identifiers: chr4:g.995570C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001782C>G , CM000666.2:g.1001782C>G	GRCh38
NC_000004.11:g.995570C>G , CM000666.1:g.995570C>G	GRCh37
NC_000004.10:g.985570C>G	NCBI36
NG_008103.1:g.19786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.693C>G	ENSP00000247933.4:p.Ser231=
ENST00000514224.2:c.693C>G MANE Select	ENSP00000425081.2:p.Ser231=
ENST00000652070.1:n.749C>G
ENST00000247933.8:c.693C>G	ENSP00000247933.4:p.Ser231=
ENST00000502910.5:c.552C>G	ENSP00000422952.1:p.Ser184=
ENST00000509948.5:c.486C>G	ENSP00000424227.1:p.Ser162=
ENST00000514192.5:c.510C>G	ENSP00000423685.1:p.Ser170=
ENST00000514224.1:c.297C>G	ENSP00000425081.1:p.Ser99=
ENST00000514698.5:n.593C>G
NM_000203.4:c.693C>G	NP_000194.2:p.Ser231=
NR_110313.1:n.781C>G
XM_006713882.2:c.297C>G	XP_006713945.1:p.Ser99=
XM_011513459.1:c.552C>G	XP_011511761.1:p.Ser184=
XM_011513460.1:c.552C>G	XP_011511762.1:p.Ser184=
XM_011513461.1:c.486C>G	XP_011511763.1:p.Ser162=
XM_011513462.1:c.405C>G	XP_011511764.1:p.Ser135=
XM_011513463.1:c.405C>G	XP_011511765.1:p.Ser135=
XR_924947.1:n.762C>G
NM_000203.5:c.693C>G MANE Select	NP_000194.2:p.Ser231=
NM_001363576.1:c.297C>G	NP_001350505.1:p.Ser99=
XM_011513461.2:c.486C>G	XP_011511763.1:p.Ser162=
XM_017008163.1:c.-268C>G	XP_016863652.1:n.-268C>G