Canonical Allele Identifier: CA355962857

Gene: IDUA

Linked Data

• dbSNP Id: rs1433608644
• MyVariant Identifiers: chr4:g.995941G>A (hg19) ; chr4:g.1002153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002153G>A , CM000666.2:g.1002153G>A	GRCh38
NC_000004.11:g.995941G>A , CM000666.1:g.995941G>A	GRCh37
NC_000004.10:g.985941G>A	NCBI36
NG_008103.1:g.20157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.964G>A	ENSP00000247933.4:p.Val322Met
ENST00000514224.2:c.964G>A MANE Select	ENSP00000425081.2:p.Val322Met
ENST00000652070.1:n.1020G>A
ENST00000247933.8:c.964G>A	ENSP00000247933.4:p.Val322Met
ENST00000514224.1:c.568G>A	ENSP00000425081.1:p.Val190Met
ENST00000514698.5:n.964G>A
NM_000203.4:c.964G>A	NP_000194.2:p.Val322Met
NR_110313.1:n.1052G>A
XM_006713882.2:c.568G>A	XP_006713945.1:p.Val190Met
XM_011513459.1:c.923G>A	XP_011511761.1:p.Gly308Asp
XM_011513460.1:c.823G>A	XP_011511762.1:p.Val275Met
XM_011513461.1:c.757G>A	XP_011511763.1:p.Val253Met
XM_011513462.1:c.676G>A	XP_011511764.1:p.Val226Met
XM_011513463.1:c.676G>A	XP_011511765.1:p.Val226Met
XR_924947.1:n.1033G>A
NM_000203.5:c.964G>A MANE Select	NP_000194.2:p.Val322Met
NM_001363576.1:c.568G>A	NP_001350505.1:p.Val190Met
XM_011513461.2:c.757G>A	XP_011511763.1:p.Val253Met
XM_017008163.1:c.4G>A	XP_016863652.1:p.Val2Met