Canonical Allele Identifier: CA355962381

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002027-G-A
• COSMIC: COSM1431917 ; COSM5128809
• MyVariant Identifiers: chr4:g.995815G>A (hg19) ; chr4:g.1002027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002027G>A , CM000666.2:g.1002027G>A	GRCh38
NC_000004.11:g.995815G>A , CM000666.1:g.995815G>A	GRCh37
NC_000004.10:g.985815G>A	NCBI36
NG_008103.1:g.20031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.838G>A	ENSP00000247933.4:p.Ala280Thr
ENST00000514224.2:c.838G>A MANE Select	ENSP00000425081.2:p.Ala280Thr
ENST00000652070.1:n.894G>A
ENST00000247933.8:c.838G>A	ENSP00000247933.4:p.Ala280Thr
ENST00000514192.5:c.655G>A	ENSP00000423685.1:p.Ala219Thr
ENST00000514224.1:c.442G>A	ENSP00000425081.1:p.Ala148Thr
ENST00000514698.5:n.838G>A
NM_000203.4:c.838G>A	NP_000194.2:p.Ala280Thr
NR_110313.1:n.926G>A
XM_006713882.2:c.442G>A	XP_006713945.1:p.Ala148Thr
XM_011513459.1:c.797G>A	XP_011511761.1:p.Arg266His
XM_011513460.1:c.697G>A	XP_011511762.1:p.Ala233Thr
XM_011513461.1:c.631G>A	XP_011511763.1:p.Ala211Thr
XM_011513462.1:c.550G>A	XP_011511764.1:p.Ala184Thr
XM_011513463.1:c.550G>A	XP_011511765.1:p.Ala184Thr
XR_924947.1:n.907G>A
NM_000203.5:c.838G>A MANE Select	NP_000194.2:p.Ala280Thr
NM_001363576.1:c.442G>A	NP_001350505.1:p.Ala148Thr
XM_011513461.2:c.631G>A	XP_011511763.1:p.Ala211Thr
XM_017008163.1:c.-123G>A	XP_016863652.1:n.-123G>A