Canonical Allele Identifier: CA355962824

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2417411
• ClinVar RCV Id: RCV003114880
• dbSNP Id: rs1398575078
• gnomAD v2: 4-995935-G-A
• gnomAD v4: 4-1002147-G-A
• MyVariant Identifiers: chr4:g.995935G>A (hg19) ; chr4:g.1002147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002147G>A , CM000666.2:g.1002147G>A	GRCh38
NC_000004.11:g.995935G>A , CM000666.1:g.995935G>A	GRCh37
NC_000004.10:g.985935G>A	NCBI36
NG_008103.1:g.20151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.958G>A	ENSP00000247933.4:p.Ala320Thr
ENST00000514224.2:c.958G>A MANE Select	ENSP00000425081.2:p.Ala320Thr
ENST00000652070.1:n.1014G>A
ENST00000247933.8:c.958G>A	ENSP00000247933.4:p.Ala320Thr
ENST00000514224.1:c.562G>A	ENSP00000425081.1:p.Ala188Thr
ENST00000514698.5:n.958G>A
NM_000203.4:c.958G>A	NP_000194.2:p.Ala320Thr
NR_110313.1:n.1046G>A
XM_006713882.2:c.562G>A	XP_006713945.1:p.Ala188Thr
XM_011513459.1:c.917G>A	XP_011511761.1:p.Gly306Asp
XM_011513460.1:c.817G>A	XP_011511762.1:p.Ala273Thr
XM_011513461.1:c.751G>A	XP_011511763.1:p.Ala251Thr
XM_011513462.1:c.670G>A	XP_011511764.1:p.Ala224Thr
XM_011513463.1:c.670G>A	XP_011511765.1:p.Ala224Thr
XR_924947.1:n.1027G>A
NM_000203.5:c.958G>A MANE Select	NP_000194.2:p.Ala320Thr
NM_001363576.1:c.562G>A	NP_001350505.1:p.Ala188Thr
XM_011513461.2:c.751G>A	XP_011511763.1:p.Ala251Thr
XM_017008163.1:c.-3G>A	XP_016863652.1:n.-3G>A