Canonical Allele Identifier: CA355965151

Gene: IDUA

Linked Data

• dbSNP Id: rs778877259
• gnomAD v2: 4-997337-G-A
• gnomAD v4: 4-1003549-G-A
• MyVariant Identifiers: chr4:g.997337G>A (hg19) ; chr4:g.1003549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003549G>A , CM000666.2:g.1003549G>A	GRCh38
NC_000004.11:g.997337G>A , CM000666.1:g.997337G>A	GRCh37
NC_000004.10:g.987337G>A	NCBI36
NG_008103.1:g.21553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1651G>A	ENSP00000247933.4:p.Val551Ile
ENST00000514224.2:c.1651G>A MANE Select	ENSP00000425081.2:p.Val551Ile
ENST00000652070.1:n.1707G>A
ENST00000247933.8:c.1651G>A	ENSP00000247933.4:p.Val551Ile
ENST00000514224.1:c.1255G>A	ENSP00000425081.1:p.Val419Ile
ENST00000514417.1:n.43G>A
ENST00000514698.5:n.1758G>A
NM_000203.4:c.1651G>A	NP_000194.2:p.Val551Ile
NR_110313.1:n.1739G>A
XM_006713882.2:c.1255G>A	XP_006713945.1:p.Val419Ile
XM_011513459.1:c.1717G>A	XP_011511761.1:p.Val573Ile
XM_011513460.1:c.1510G>A	XP_011511762.1:p.Val504Ile
XM_011513461.1:c.1444G>A	XP_011511763.1:p.Val482Ile
XM_011513462.1:c.1363G>A	XP_011511764.1:p.Val455Ile
XM_011513463.1:c.1363G>A	XP_011511765.1:p.Val455Ile
XR_924947.1:n.1907G>A
NM_000203.5:c.1651G>A MANE Select	NP_000194.2:p.Val551Ile
NM_001363576.1:c.1255G>A	NP_001350505.1:p.Val419Ile
XM_011513461.2:c.1444G>A	XP_011511763.1:p.Val482Ile
XM_017008163.1:c.691G>A	XP_016863652.1:p.Val231Ile