Canonical Allele Identifier: CA355961899

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1323100
• ClinVar RCV Id: RCV001783464
• dbSNP Id: rs766574778
• gnomAD v4: 4-1001692-C-G
• MyVariant Identifiers: chr4:g.995480C>G (hg19) ; chr4:g.1001692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001692C>G , CM000666.2:g.1001692C>G	GRCh38
NC_000004.11:g.995480C>G , CM000666.1:g.995480C>G	GRCh37
NC_000004.10:g.985480C>G	NCBI36
NG_008103.1:g.19696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.603C>G	ENSP00000247933.4:p.Tyr201Ter
ENST00000514224.2:c.603C>G MANE Select	ENSP00000425081.2:p.Tyr201Ter
ENST00000652070.1:n.659C>G
ENST00000247933.8:c.603C>G	ENSP00000247933.4:p.Tyr201Ter
ENST00000502910.5:c.462C>G	ENSP00000422952.1:p.Tyr154Ter
ENST00000504568.5:c.563C>G
ENST00000509948.5:c.396C>G	ENSP00000424227.1:p.Tyr132Ter
ENST00000514192.5:c.420C>G	ENSP00000423685.1:p.Tyr140Ter
ENST00000514224.1:c.207C>G	ENSP00000425081.1:p.Tyr69Ter
ENST00000514698.5:n.503C>G
NM_000203.4:c.603C>G	NP_000194.2:p.Tyr201Ter
NR_110313.1:n.691C>G
XM_006713882.2:c.207C>G	XP_006713945.1:p.Tyr69Ter
XM_011513459.1:c.462C>G	XP_011511761.1:p.Tyr154Ter
XM_011513460.1:c.462C>G	XP_011511762.1:p.Tyr154Ter
XM_011513461.1:c.396C>G	XP_011511763.1:p.Tyr132Ter
XM_011513462.1:c.315C>G	XP_011511764.1:p.Tyr105Ter
XM_011513463.1:c.315C>G	XP_011511765.1:p.Tyr105Ter
XR_924947.1:n.672C>G
NM_000203.5:c.603C>G MANE Select	NP_000194.2:p.Tyr201Ter
NM_001363576.1:c.207C>G	NP_001350505.1:p.Tyr69Ter
XM_011513461.2:c.396C>G	XP_011511763.1:p.Tyr132Ter
XM_017008163.1:c.-358C>G	XP_016863652.1:n.-358C>G