Canonical Allele Identifier: CA1058438467

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1118126
• ClinVar RCV Id: RCV001447138
• dbSNP Id: rs1715175188
• gnomAD v3: 4-1002725-C-T
• gnomAD v4: 4-1002725-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002725C>T , CM000666.2:g.1002725C>T	GRCh38
NC_000004.11:g.996513C>T , CM000666.1:g.996513C>T	GRCh37
NC_000004.10:g.986513C>T	NCBI36
NG_008103.1:g.20729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-7C>T	ENSP00000247933.4:n.1190-7C>T
ENST00000514224.2:c.1190-7C>T MANE Select	ENSP00000425081.2:n.1190-7C>T
ENST00000652070.1:n.1246-7C>T
ENST00000247933.8:c.1190-7C>T	ENSP00000247933.4:n.1190-7C>T
ENST00000514224.1:c.794-7C>T	ENSP00000425081.1:n.794-7C>T
ENST00000514698.5:n.1297-7C>T
NM_000203.4:c.1190-7C>T	NP_000194.2:n.1190-7C>T
NR_110313.1:n.1278-7C>T
XM_006713882.2:c.794-7C>T	XP_006713945.1:n.794-7C>T
XM_011513459.1:c.1256-7C>T	XP_011511761.1:n.1256-7C>T
XM_011513460.1:c.1049-7C>T	XP_011511762.1:n.1049-7C>T
XM_011513461.1:c.983-7C>T	XP_011511763.1:n.983-7C>T
XM_011513462.1:c.902-7C>T	XP_011511764.1:n.902-7C>T
XM_011513463.1:c.902-7C>T	XP_011511765.1:n.902-7C>T
XR_924947.1:n.1259-7C>T
NM_000203.5:c.1190-7C>T MANE Select	NP_000194.2:n.1190-7C>T
NM_001363576.1:c.794-7C>T	NP_001350505.1:n.794-7C>T
XM_011513461.2:c.983-7C>T	XP_011511763.1:n.983-7C>T
XM_017008163.1:c.230-7C>T	XP_016863652.1:n.230-7C>T