Canonical Allele Identifier: CA91168764

Gene: IDUA

Linked Data

• dbSNP Id: rs1030481841
• gnomAD v4: 4-1002219-G-A
• MyVariant Identifiers: chr4:g.996007G>A (hg19) ; chr4:g.1002219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002219G>A , CM000666.2:g.1002219G>A	GRCh38
NC_000004.11:g.996007G>A , CM000666.1:g.996007G>A	GRCh37
NC_000004.10:g.986007G>A	NCBI36
NG_008103.1:g.20223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.973-50G>A	ENSP00000247933.4:n.973-50G>A
ENST00000514224.2:c.973-50G>A MANE Select	ENSP00000425081.2:n.973-50G>A
ENST00000652070.1:n.1029-50G>A
ENST00000247933.8:c.973-50G>A	ENSP00000247933.4:n.973-50G>A
ENST00000514224.1:c.577-50G>A	ENSP00000425081.1:n.577-50G>A
ENST00000514698.5:n.1030G>A
NM_000203.4:c.973-50G>A	NP_000194.2:n.973-50G>A
NR_110313.1:n.1061-50G>A
XM_006713882.2:c.577-50G>A	XP_006713945.1:n.577-50G>A
XM_011513459.1:c.989G>A	XP_011511761.1:p.Arg330Lys
XM_011513460.1:c.832-50G>A	XP_011511762.1:n.832-50G>A
XM_011513461.1:c.766-50G>A	XP_011511763.1:n.766-50G>A
XM_011513462.1:c.685-50G>A	XP_011511764.1:n.685-50G>A
XM_011513463.1:c.685-50G>A	XP_011511765.1:n.685-50G>A
XR_924947.1:n.1042-50G>A
NM_000203.5:c.973-50G>A MANE Select	NP_000194.2:n.973-50G>A
NM_001363576.1:c.577-50G>A	NP_001350505.1:n.577-50G>A
XM_011513461.2:c.766-50G>A	XP_011511763.1:n.766-50G>A
XM_017008163.1:c.13-50G>A	XP_016863652.1:n.13-50G>A