Canonical Allele Identifier: CA91170480

Gene: IDUA

Linked Data

• dbSNP Id: rs987182233
• gnomAD v2: 4-996945-G-A
• gnomAD v3: 4-1003157-G-A
• gnomAD v4: 4-1003157-G-A
• MyVariant Identifiers: chr4:g.996945G>A (hg19) ; chr4:g.1003157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003157G>A , CM000666.2:g.1003157G>A	GRCh38
NC_000004.11:g.996945G>A , CM000666.1:g.996945G>A	GRCh37
NC_000004.10:g.986945G>A	NCBI36
NG_008103.1:g.21161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524G>A	ENSP00000247933.4:p.Glu508=
ENST00000514224.2:c.1524G>A MANE Select	ENSP00000425081.2:p.Glu508=
ENST00000652070.1:n.1580G>A
ENST00000247933.8:c.1524G>A	ENSP00000247933.4:p.Glu508=
ENST00000502829.1:n.326G>A
ENST00000514224.1:c.1128G>A	ENSP00000425081.1:p.Glu376=
ENST00000514698.5:n.1631G>A
NM_000203.4:c.1524G>A	NP_000194.2:p.Glu508=
NR_110313.1:n.1612G>A
XM_006713882.2:c.1128G>A	XP_006713945.1:p.Glu376=
XM_011513459.1:c.1590G>A	XP_011511761.1:p.Glu530=
XM_011513460.1:c.1383G>A	XP_011511762.1:p.Glu461=
XM_011513461.1:c.1317G>A	XP_011511763.1:p.Glu439=
XM_011513462.1:c.1236G>A	XP_011511764.1:p.Glu412=
XM_011513463.1:c.1236G>A	XP_011511765.1:p.Glu412=
XR_924947.1:n.1593G>A
NM_000203.5:c.1524G>A MANE Select	NP_000194.2:p.Glu508=
NM_001363576.1:c.1128G>A	NP_001350505.1:p.Glu376=
XM_011513461.2:c.1317G>A	XP_011511763.1:p.Glu439=
XM_017008163.1:c.564G>A	XP_016863652.1:p.Glu188=