Canonical Allele Identifier: CA437918893

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001428-G-A
• MyVariant Identifiers: chr4:g.995216G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001428G>A , CM000666.2:g.1001428G>A	GRCh38
NC_000004.11:g.995216G>A , CM000666.1:g.995216G>A	GRCh37
NC_000004.10:g.985216G>A	NCBI36
NG_008103.1:g.19432G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-40G>A	ENSP00000247933.4:n.494-40G>A
ENST00000514224.2:c.494-40G>A MANE Select	ENSP00000425081.2:n.494-40G>A
ENST00000652070.1:n.550-40G>A
ENST00000247933.8:c.494-40G>A	ENSP00000247933.4:n.494-40G>A
ENST00000502910.5:c.353-40G>A	ENSP00000422952.1:n.353-40G>A
ENST00000504568.5:c.454-40G>A
ENST00000509948.5:c.287-40G>A	ENSP00000424227.1:n.287-40G>A
ENST00000514192.5:c.311-40G>A	ENSP00000423685.1:n.311-40G>A
ENST00000514224.1:c.98-40G>A	ENSP00000425081.1:n.98-40G>A
ENST00000514698.5:n.394-40G>A
NM_000203.4:c.494-40G>A	NP_000194.2:n.494-40G>A
NR_110313.1:n.582-40G>A
XM_006713882.2:c.98-40G>A	XP_006713945.1:n.98-40G>A
XM_011513459.1:c.353-40G>A	XP_011511761.1:n.353-40G>A
XM_011513460.1:c.353-40G>A	XP_011511762.1:n.353-40G>A
XM_011513461.1:c.287-40G>A	XP_011511763.1:n.287-40G>A
XM_011513462.1:c.206-40G>A	XP_011511764.1:n.206-40G>A
XM_011513463.1:c.206-40G>A	XP_011511765.1:n.206-40G>A
XR_924947.1:n.563-40G>A
NM_000203.5:c.494-40G>A MANE Select	NP_000194.2:n.494-40G>A
NM_001363576.1:c.98-40G>A	NP_001350505.1:n.98-40G>A
XM_011513461.2:c.287-40G>A	XP_011511763.1:n.287-40G>A
XM_017008163.1:c.-535G>A	XP_016863652.1:n.-535G>A