Canonical Allele Identifier: CA355962252

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001868-C-A
• MyVariant Identifiers: chr4:g.995656C>A (hg19) ; chr4:g.1001868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001868C>A , CM000666.2:g.1001868C>A	GRCh38
NC_000004.11:g.995656C>A , CM000666.1:g.995656C>A	GRCh37
NC_000004.10:g.985656C>A	NCBI36
NG_008103.1:g.19872C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.779C>A	ENSP00000247933.4:p.Ser260Tyr
ENST00000514224.2:c.779C>A MANE Select	ENSP00000425081.2:p.Ser260Tyr
ENST00000652070.1:n.835C>A
ENST00000247933.8:c.779C>A	ENSP00000247933.4:p.Ser260Tyr
ENST00000502910.5:c.638C>A	ENSP00000422952.1:p.Ser213Tyr
ENST00000514192.5:c.596C>A	ENSP00000423685.1:p.Ser199Tyr
ENST00000514224.1:c.383C>A	ENSP00000425081.1:p.Ser128Tyr
ENST00000514698.5:n.679C>A
NM_000203.4:c.779C>A	NP_000194.2:p.Ser260Tyr
NR_110313.1:n.867C>A
XM_006713882.2:c.383C>A	XP_006713945.1:p.Ser128Tyr
XM_011513459.1:c.638C>A	XP_011511761.1:p.Ser213Tyr
XM_011513460.1:c.638C>A	XP_011511762.1:p.Ser213Tyr
XM_011513461.1:c.572C>A	XP_011511763.1:p.Ser191Tyr
XM_011513462.1:c.491C>A	XP_011511764.1:p.Ser164Tyr
XM_011513463.1:c.491C>A	XP_011511765.1:p.Ser164Tyr
XR_924947.1:n.848C>A
NM_000203.5:c.779C>A MANE Select	NP_000194.2:p.Ser260Tyr
NM_001363576.1:c.383C>A	NP_001350505.1:p.Ser128Tyr
XM_011513461.2:c.572C>A	XP_011511763.1:p.Ser191Tyr
XM_017008163.1:c.-182C>A	XP_016863652.1:n.-182C>A