Canonical Allele Identifier: CA355963534

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1683229
• ClinVar RCV Id: RCV002238558
• dbSNP Id: rs1354690186
• gnomAD v2: 4-996528-C-T
• gnomAD v3: 4-1002740-C-T
• gnomAD v4: 4-1002740-C-T
• MyVariant Identifiers: chr4:g.996528C>T (hg19) ; chr4:g.1002740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002740C>T , CM000666.2:g.1002740C>T	GRCh38
NC_000004.11:g.996528C>T , CM000666.1:g.996528C>T	GRCh37
NC_000004.10:g.986528C>T	NCBI36
NG_008103.1:g.20744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1198C>T	ENSP00000247933.4:p.Gln400Ter
ENST00000514224.2:c.1198C>T MANE Select	ENSP00000425081.2:p.Gln400Ter
ENST00000652070.1:n.1254C>T
ENST00000247933.8:c.1198C>T	ENSP00000247933.4:p.Gln400Ter
ENST00000514224.1:c.802C>T	ENSP00000425081.1:p.Gln268Ter
ENST00000514698.5:n.1305C>T
NM_000203.4:c.1198C>T	NP_000194.2:p.Gln400Ter
NR_110313.1:n.1286C>T
XM_006713882.2:c.802C>T	XP_006713945.1:p.Gln268Ter
XM_011513459.1:c.1264C>T	XP_011511761.1:p.Gln422Ter
XM_011513460.1:c.1057C>T	XP_011511762.1:p.Gln353Ter
XM_011513461.1:c.991C>T	XP_011511763.1:p.Gln331Ter
XM_011513462.1:c.910C>T	XP_011511764.1:p.Gln304Ter
XM_011513463.1:c.910C>T	XP_011511765.1:p.Gln304Ter
XR_924947.1:n.1267C>T
NM_000203.5:c.1198C>T MANE Select	NP_000194.2:p.Gln400Ter
NM_001363576.1:c.802C>T	NP_001350505.1:p.Gln268Ter
XM_011513461.2:c.991C>T	XP_011511763.1:p.Gln331Ter
XM_017008163.1:c.238C>T	XP_016863652.1:p.Gln80Ter