Canonical Allele Identifier: CA784302752

Gene: IDUA

Linked Data

• dbSNP Id: rs1292676296
• gnomAD v4: 4-1001357-G-A
• MyVariant Identifiers: chr4:g.995145G>A (hg19) ; chr4:g.1001357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001357G>A , CM000666.2:g.1001357G>A	GRCh38
NC_000004.11:g.995145G>A , CM000666.1:g.995145G>A	GRCh37
NC_000004.10:g.985145G>A	NCBI36
NG_008103.1:g.19361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.494-111G>A	ENSP00000247933.4:n.494-111G>A
ENST00000514224.2:c.494-111G>A MANE Select	ENSP00000425081.2:n.494-111G>A
ENST00000652070.1:n.550-111G>A
ENST00000247933.8:c.494-111G>A	ENSP00000247933.4:n.494-111G>A
ENST00000502910.5:c.353-111G>A	ENSP00000422952.1:n.353-111G>A
ENST00000504568.5:c.454-111G>A
ENST00000509948.5:c.287-111G>A	ENSP00000424227.1:n.287-111G>A
ENST00000514192.5:c.311-111G>A	ENSP00000423685.1:n.311-111G>A
ENST00000514224.1:c.98-111G>A	ENSP00000425081.1:n.98-111G>A
ENST00000514698.5:n.394-111G>A
NM_000203.4:c.494-111G>A	NP_000194.2:n.494-111G>A
NR_110313.1:n.582-111G>A
XM_006713882.2:c.98-111G>A	XP_006713945.1:n.98-111G>A
XM_011513459.1:c.353-111G>A	XP_011511761.1:n.353-111G>A
XM_011513460.1:c.353-111G>A	XP_011511762.1:n.353-111G>A
XM_011513461.1:c.287-111G>A	XP_011511763.1:n.287-111G>A
XM_011513462.1:c.206-111G>A	XP_011511764.1:n.206-111G>A
XM_011513463.1:c.206-111G>A	XP_011511765.1:n.206-111G>A
XR_924947.1:n.563-111G>A
NM_000203.5:c.494-111G>A MANE Select	NP_000194.2:n.494-111G>A
NM_001363576.1:c.98-111G>A	NP_001350505.1:n.98-111G>A
XM_011513461.2:c.287-111G>A	XP_011511763.1:n.287-111G>A
XM_017008163.1:c.-606G>A	XP_016863652.1:n.-606G>A