Canonical Allele Identifier: CA355963582

Gene: IDUA

Linked Data

• ClinVar Variation Id: 983616
• ClinVar RCV Id: RCV001263616
• dbSNP Id: rs1715178056
• MyVariant Identifiers: chr4:g.996549C>T (hg19) ; chr4:g.1002761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002761C>T , CM000666.2:g.1002761C>T	GRCh38
NC_000004.11:g.996549C>T , CM000666.1:g.996549C>T	GRCh37
NC_000004.10:g.986549C>T	NCBI36
NG_008103.1:g.20765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1219C>T	ENSP00000247933.4:p.Gln407Ter
ENST00000514224.2:c.1219C>T MANE Select	ENSP00000425081.2:p.Gln407Ter
ENST00000652070.1:n.1275C>T
ENST00000247933.8:c.1219C>T	ENSP00000247933.4:p.Gln407Ter
ENST00000502829.1:n.21C>T
ENST00000514224.1:c.823C>T	ENSP00000425081.1:p.Gln275Ter
ENST00000514698.5:n.1326C>T
NM_000203.4:c.1219C>T	NP_000194.2:p.Gln407Ter
NR_110313.1:n.1307C>T
XM_006713882.2:c.823C>T	XP_006713945.1:p.Gln275Ter
XM_011513459.1:c.1285C>T	XP_011511761.1:p.Gln429Ter
XM_011513460.1:c.1078C>T	XP_011511762.1:p.Gln360Ter
XM_011513461.1:c.1012C>T	XP_011511763.1:p.Gln338Ter
XM_011513462.1:c.931C>T	XP_011511764.1:p.Gln311Ter
XM_011513463.1:c.931C>T	XP_011511765.1:p.Gln311Ter
XR_924947.1:n.1288C>T
NM_000203.5:c.1219C>T MANE Select	NP_000194.2:p.Gln407Ter
NM_001363576.1:c.823C>T	NP_001350505.1:p.Gln275Ter
XM_011513461.2:c.1012C>T	XP_011511763.1:p.Gln338Ter
XM_017008163.1:c.259C>T	XP_016863652.1:p.Gln87Ter