Canonical Allele Identifier: CA91171127

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1032924
• ClinVar RCV Id: RCV001387945
• dbSNP Id: rs752800292
• MyVariant Identifiers: chr4:g.997367C>T (hg19) ; chr4:g.1003579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003579C>T , CM000666.2:g.1003579C>T	GRCh38
NC_000004.11:g.997367C>T , CM000666.1:g.997367C>T	GRCh37
NC_000004.10:g.987367C>T	NCBI36
NG_008103.1:g.21583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1681C>T	ENSP00000247933.4:p.Gln561Ter
ENST00000514224.2:c.1681C>T MANE Select	ENSP00000425081.2:p.Gln561Ter
ENST00000652070.1:n.1737C>T
ENST00000247933.8:c.1681C>T	ENSP00000247933.4:p.Gln561Ter
ENST00000514224.1:c.1285C>T	ENSP00000425081.1:p.Gln429Ter
ENST00000514417.1:n.73C>T
ENST00000514698.5:n.1788C>T
NM_000203.4:c.1681C>T	NP_000194.2:p.Gln561Ter
NR_110313.1:n.1769C>T
XM_006713882.2:c.1285C>T	XP_006713945.1:p.Gln429Ter
XM_011513459.1:c.1747C>T	XP_011511761.1:p.Gln583Ter
XM_011513460.1:c.1540C>T	XP_011511762.1:p.Gln514Ter
XM_011513461.1:c.1474C>T	XP_011511763.1:p.Gln492Ter
XM_011513462.1:c.1393C>T	XP_011511764.1:p.Gln465Ter
XM_011513463.1:c.1393C>T	XP_011511765.1:p.Gln465Ter
XR_924947.1:n.1937C>T
NM_000203.5:c.1681C>T MANE Select	NP_000194.2:p.Gln561Ter
NM_001363576.1:c.1285C>T	NP_001350505.1:p.Gln429Ter
XM_011513461.2:c.1474C>T	XP_011511763.1:p.Gln492Ter
XM_017008163.1:c.721C>T	XP_016863652.1:p.Gln241Ter