Canonical Allele Identifier: CA2802031

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2145829
• ClinVar RCV Id: RCV003065231
• dbSNP Id: rs140294059
• ExAC: 4:995490 T / A
• gnomAD v2: 4-995490-T-A
• gnomAD v3: 4-1001702-T-A
• gnomAD v4: 4-1001702-T-A
• MyVariant Identifiers: chr4:g.995490T>A (hg19) ; chr4:g.1001702T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001702T>A , CM000666.2:g.1001702T>A	GRCh38
NC_000004.11:g.995490T>A , CM000666.1:g.995490T>A	GRCh37
NC_000004.10:g.985490T>A	NCBI36
NG_008103.1:g.19706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.613T>A	ENSP00000247933.4:p.Cys205Ser
ENST00000514224.2:c.613T>A MANE Select	ENSP00000425081.2:p.Cys205Ser
ENST00000652070.1:n.669T>A
ENST00000247933.8:c.613T>A	ENSP00000247933.4:p.Cys205Ser
ENST00000502910.5:c.472T>A	ENSP00000422952.1:p.Cys158Ser
ENST00000504568.5:c.573T>A
ENST00000509948.5:c.406T>A	ENSP00000424227.1:p.Cys136Ser
ENST00000514192.5:c.430T>A	ENSP00000423685.1:p.Cys144Ser
ENST00000514224.1:c.217T>A	ENSP00000425081.1:p.Cys73Ser
ENST00000514698.5:n.513T>A
NM_000203.4:c.613T>A	NP_000194.2:p.Cys205Ser
NR_110313.1:n.701T>A
XM_006713882.2:c.217T>A	XP_006713945.1:p.Cys73Ser
XM_011513459.1:c.472T>A	XP_011511761.1:p.Cys158Ser
XM_011513460.1:c.472T>A	XP_011511762.1:p.Cys158Ser
XM_011513461.1:c.406T>A	XP_011511763.1:p.Cys136Ser
XM_011513462.1:c.325T>A	XP_011511764.1:p.Cys109Ser
XM_011513463.1:c.325T>A	XP_011511765.1:p.Cys109Ser
XR_924947.1:n.682T>A
NM_000203.5:c.613T>A MANE Select	NP_000194.2:p.Cys205Ser
NM_001363576.1:c.217T>A	NP_001350505.1:p.Cys73Ser
XM_011513461.2:c.406T>A	XP_011511763.1:p.Cys136Ser
XM_017008163.1:c.-348T>A	XP_016863652.1:n.-348T>A