Canonical Allele Identifier: CA355962238

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432724
• ClinVar RCV Id: RCV003135741
• dbSNP Id: rs1230294335
• gnomAD v2: 4-995650-A-G
• gnomAD v4: 4-1001862-A-G
• MyVariant Identifiers: chr4:g.995650A>G (hg19) ; chr4:g.1001862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001862A>G , CM000666.2:g.1001862A>G	GRCh38
NC_000004.11:g.995650A>G , CM000666.1:g.995650A>G	GRCh37
NC_000004.10:g.985650A>G	NCBI36
NG_008103.1:g.19866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.773A>G	ENSP00000247933.4:p.Tyr258Cys
ENST00000514224.2:c.773A>G MANE Select	ENSP00000425081.2:p.Tyr258Cys
ENST00000652070.1:n.829A>G
ENST00000247933.8:c.773A>G	ENSP00000247933.4:p.Tyr258Cys
ENST00000502910.5:c.632A>G	ENSP00000422952.1:p.Tyr211Cys
ENST00000514192.5:c.590A>G	ENSP00000423685.1:p.Tyr197Cys
ENST00000514224.1:c.377A>G	ENSP00000425081.1:p.Tyr126Cys
ENST00000514698.5:n.673A>G
NM_000203.4:c.773A>G	NP_000194.2:p.Tyr258Cys
NR_110313.1:n.861A>G
XM_006713882.2:c.377A>G	XP_006713945.1:p.Tyr126Cys
XM_011513459.1:c.632A>G	XP_011511761.1:p.Tyr211Cys
XM_011513460.1:c.632A>G	XP_011511762.1:p.Tyr211Cys
XM_011513461.1:c.566A>G	XP_011511763.1:p.Tyr189Cys
XM_011513462.1:c.485A>G	XP_011511764.1:p.Tyr162Cys
XM_011513463.1:c.485A>G	XP_011511765.1:p.Tyr162Cys
XR_924947.1:n.842A>G
NM_000203.5:c.773A>G MANE Select	NP_000194.2:p.Tyr258Cys
NM_001363576.1:c.377A>G	NP_001350505.1:p.Tyr126Cys
XM_011513461.2:c.566A>G	XP_011511763.1:p.Tyr189Cys
XM_017008163.1:c.-188A>G	XP_016863652.1:n.-188A>G