Canonical Allele Identifier: CA438057549

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1127781
• ClinVar RCV Id: RCV001460293
• dbSNP Id: rs6830825
• gnomAD v2: 4-995919-G-A
• gnomAD v4: 4-1002131-G-A
• MyVariant Identifiers: chr4:g.995919G>A (hg19) ; chr4:g.1002131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002131G>A , CM000666.2:g.1002131G>A	GRCh38
NC_000004.11:g.995919G>A , CM000666.1:g.995919G>A	GRCh37
NC_000004.10:g.985919G>A	NCBI36
NG_008103.1:g.20135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.942G>A	ENSP00000247933.4:p.Ala314=
ENST00000514224.2:c.942G>A MANE Select	ENSP00000425081.2:p.Ala314=
ENST00000652070.1:n.998G>A
ENST00000247933.8:c.942G>A	ENSP00000247933.4:p.Ala314=
ENST00000514224.1:c.546G>A	ENSP00000425081.1:p.Ala182=
ENST00000514698.5:n.942G>A
NM_000203.4:c.942G>A	NP_000194.2:p.Ala314=
NR_110313.1:n.1030G>A
XM_006713882.2:c.546G>A	XP_006713945.1:p.Ala182=
XM_011513459.1:c.901G>A	XP_011511761.1:p.Gly301Arg
XM_011513460.1:c.801G>A	XP_011511762.1:p.Ala267=
XM_011513461.1:c.735G>A	XP_011511763.1:p.Ala245=
XM_011513462.1:c.654G>A	XP_011511764.1:p.Ala218=
XM_011513463.1:c.654G>A	XP_011511765.1:p.Ala218=
XR_924947.1:n.1011G>A
NM_000203.5:c.942G>A MANE Select	NP_000194.2:p.Ala314=
NM_001363576.1:c.546G>A	NP_001350505.1:p.Ala182=
XM_011513461.2:c.735G>A	XP_011511763.1:p.Ala245=
XM_017008163.1:c.-19G>A	XP_016863652.1:n.-19G>A