Canonical Allele Identifier: CA2802310

Gene: IDUA

Linked Data

• dbSNP Id: rs765815271
• ExAC: 4:997248 C / A
• gnomAD v2: 4-997248-C-A
• gnomAD v4: 4-1003460-C-A
• MyVariant Identifiers: chr4:g.997248C>A (hg19) ; chr4:g.1003460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003460C>A , CM000666.2:g.1003460C>A	GRCh38
NC_000004.11:g.997248C>A , CM000666.1:g.997248C>A	GRCh37
NC_000004.10:g.987248C>A	NCBI36
NG_008103.1:g.21464C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1640C>A	ENSP00000247933.4:p.Pro547Gln
ENST00000514224.2:c.1640C>A MANE Select	ENSP00000425081.2:p.Pro547Gln
ENST00000652070.1:n.1696C>A
ENST00000247933.8:c.1640C>A	ENSP00000247933.4:p.Pro547Gln
ENST00000514224.1:c.1244C>A	ENSP00000425081.1:p.Pro415Gln
ENST00000514417.1:n.32C>A
ENST00000514698.5:n.1747C>A
NM_000203.4:c.1640C>A	NP_000194.2:p.Pro547Gln
NR_110313.1:n.1728C>A
XM_006713882.2:c.1244C>A	XP_006713945.1:p.Pro415Gln
XM_011513459.1:c.1706C>A	XP_011511761.1:p.Pro569Gln
XM_011513460.1:c.1499C>A	XP_011511762.1:p.Pro500Gln
XM_011513461.1:c.1433C>A	XP_011511763.1:p.Pro478Gln
XM_011513462.1:c.1352C>A	XP_011511764.1:p.Pro451Gln
XM_011513463.1:c.1352C>A	XP_011511765.1:p.Pro451Gln
XR_924947.1:n.1896C>A
NM_000203.5:c.1640C>A MANE Select	NP_000194.2:p.Pro547Gln
NM_001363576.1:c.1244C>A	NP_001350505.1:p.Pro415Gln
XM_011513461.2:c.1433C>A	XP_011511763.1:p.Pro478Gln
XM_017008163.1:c.680C>A	XP_016863652.1:p.Pro227Gln