Canonical Allele Identifier: CA355965157

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003553-C-A
• MyVariant Identifiers: chr4:g.997341C>A (hg19) ; chr4:g.1003553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003553C>A , CM000666.2:g.1003553C>A	GRCh38
NC_000004.11:g.997341C>A , CM000666.1:g.997341C>A	GRCh37
NC_000004.10:g.987341C>A	NCBI36
NG_008103.1:g.21557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1655C>A	ENSP00000247933.4:p.Thr552Lys
ENST00000514224.2:c.1655C>A MANE Select	ENSP00000425081.2:p.Thr552Lys
ENST00000652070.1:n.1711C>A
ENST00000247933.8:c.1655C>A	ENSP00000247933.4:p.Thr552Lys
ENST00000514224.1:c.1259C>A	ENSP00000425081.1:p.Thr420Lys
ENST00000514417.1:n.47C>A
ENST00000514698.5:n.1762C>A
NM_000203.4:c.1655C>A	NP_000194.2:p.Thr552Lys
NR_110313.1:n.1743C>A
XM_006713882.2:c.1259C>A	XP_006713945.1:p.Thr420Lys
XM_011513459.1:c.1721C>A	XP_011511761.1:p.Thr574Lys
XM_011513460.1:c.1514C>A	XP_011511762.1:p.Thr505Lys
XM_011513461.1:c.1448C>A	XP_011511763.1:p.Thr483Lys
XM_011513462.1:c.1367C>A	XP_011511764.1:p.Thr456Lys
XM_011513463.1:c.1367C>A	XP_011511765.1:p.Thr456Lys
XR_924947.1:n.1911C>A
NM_000203.5:c.1655C>A MANE Select	NP_000194.2:p.Thr552Lys
NM_001363576.1:c.1259C>A	NP_001350505.1:p.Thr420Lys
XM_011513461.2:c.1448C>A	XP_011511763.1:p.Thr483Lys
XM_017008163.1:c.695C>A	XP_016863652.1:p.Thr232Lys