Canonical Allele Identifier: CA355963728

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002806-G-A
• MyVariant Identifiers: chr4:g.996594G>A (hg19) ; chr4:g.1002806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002806G>A , CM000666.2:g.1002806G>A	GRCh38
NC_000004.11:g.996594G>A , CM000666.1:g.996594G>A	GRCh37
NC_000004.10:g.986594G>A	NCBI36
NG_008103.1:g.20810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1264G>A	ENSP00000247933.4:p.Ala422Thr
ENST00000514224.2:c.1264G>A MANE Select	ENSP00000425081.2:p.Ala422Thr
ENST00000652070.1:n.1320G>A
ENST00000247933.8:c.1264G>A	ENSP00000247933.4:p.Ala422Thr
ENST00000502829.1:n.66G>A
ENST00000514224.1:c.868G>A	ENSP00000425081.1:p.Ala290Thr
ENST00000514698.5:n.1371G>A
NM_000203.4:c.1264G>A	NP_000194.2:p.Ala422Thr
NR_110313.1:n.1352G>A
XM_006713882.2:c.868G>A	XP_006713945.1:p.Ala290Thr
XM_011513459.1:c.1330G>A	XP_011511761.1:p.Ala444Thr
XM_011513460.1:c.1123G>A	XP_011511762.1:p.Ala375Thr
XM_011513461.1:c.1057G>A	XP_011511763.1:p.Ala353Thr
XM_011513462.1:c.976G>A	XP_011511764.1:p.Ala326Thr
XM_011513463.1:c.976G>A	XP_011511765.1:p.Ala326Thr
XR_924947.1:n.1333G>A
NM_000203.5:c.1264G>A MANE Select	NP_000194.2:p.Ala422Thr
NM_001363576.1:c.868G>A	NP_001350505.1:p.Ala290Thr
XM_011513461.2:c.1057G>A	XP_011511763.1:p.Ala353Thr
XM_017008163.1:c.304G>A	XP_016863652.1:p.Ala102Thr