Canonical Allele Identifier: CA438057570

Gene: IDUA

Linked Data

• dbSNP Id: rs1329033201
• gnomAD v4: 4-1002155-G-A
• MyVariant Identifiers: chr4:g.995943G>A (hg19) ; chr4:g.1002155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002155G>A , CM000666.2:g.1002155G>A	GRCh38
NC_000004.11:g.995943G>A , CM000666.1:g.995943G>A	GRCh37
NC_000004.10:g.985943G>A	NCBI36
NG_008103.1:g.20159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.966G>A	ENSP00000247933.4:p.Val322=
ENST00000514224.2:c.966G>A MANE Select	ENSP00000425081.2:p.Val322=
ENST00000652070.1:n.1022G>A
ENST00000247933.8:c.966G>A	ENSP00000247933.4:p.Val322=
ENST00000514224.1:c.570G>A	ENSP00000425081.1:p.Val190=
ENST00000514698.5:n.966G>A
NM_000203.4:c.966G>A	NP_000194.2:p.Val322=
NR_110313.1:n.1054G>A
XM_006713882.2:c.570G>A	XP_006713945.1:p.Val190=
XM_011513459.1:c.925G>A	XP_011511761.1:p.Gly309Ser
XM_011513460.1:c.825G>A	XP_011511762.1:p.Val275=
XM_011513461.1:c.759G>A	XP_011511763.1:p.Val253=
XM_011513462.1:c.678G>A	XP_011511764.1:p.Val226=
XM_011513463.1:c.678G>A	XP_011511765.1:p.Val226=
XR_924947.1:n.1035G>A
NM_000203.5:c.966G>A MANE Select	NP_000194.2:p.Val322=
NM_001363576.1:c.570G>A	NP_001350505.1:p.Val190=
XM_011513461.2:c.759G>A	XP_011511763.1:p.Val253=
XM_017008163.1:c.6G>A	XP_016863652.1:p.Val2=