Canonical Allele Identifier: CA355963288

Gene: IDUA

Linked Data

• dbSNP Id: rs2153022386
• MyVariant Identifiers: chr4:g.996166C>A (hg19) ; chr4:g.1002378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002378C>A , CM000666.2:g.1002378C>A	GRCh38
NC_000004.11:g.996166C>A , CM000666.1:g.996166C>A	GRCh37
NC_000004.10:g.986166C>A	NCBI36
NG_008103.1:g.20382C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1082C>A	ENSP00000247933.4:p.Ala361Glu
ENST00000514224.2:c.1082C>A MANE Select	ENSP00000425081.2:p.Ala361Glu
ENST00000652070.1:n.1138C>A
ENST00000247933.8:c.1082C>A	ENSP00000247933.4:p.Ala361Glu
ENST00000514224.1:c.686C>A	ENSP00000425081.1:p.Ala229Glu
ENST00000514698.5:n.1189C>A
NM_000203.4:c.1082C>A	NP_000194.2:p.Ala361Glu
NR_110313.1:n.1170C>A
XM_006713882.2:c.686C>A	XP_006713945.1:p.Ala229Glu
XM_011513459.1:c.1148C>A	XP_011511761.1:p.Ala383Glu
XM_011513460.1:c.941C>A	XP_011511762.1:p.Ala314Glu
XM_011513461.1:c.875C>A	XP_011511763.1:p.Ala292Glu
XM_011513462.1:c.794C>A	XP_011511764.1:p.Ala265Glu
XM_011513463.1:c.794C>A	XP_011511765.1:p.Ala265Glu
XR_924947.1:n.1151C>A
NM_000203.5:c.1082C>A MANE Select	NP_000194.2:p.Ala361Glu
NM_001363576.1:c.686C>A	NP_001350505.1:p.Ala229Glu
XM_011513461.2:c.875C>A	XP_011511763.1:p.Ala292Glu
XM_017008163.1:c.122C>A	XP_016863652.1:p.Ala41Glu