Canonical Allele Identifier: CA1433067243

Gene: IDUA

Linked Data

• dbSNP Id: rs1715064756
• gnomAD v4: 4-1001430-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001430T>C , CM000666.2:g.1001430T>C	GRCh38
NC_000004.11:g.995218T>C , CM000666.1:g.995218T>C	GRCh37
NC_000004.10:g.985218T>C	NCBI36
NG_008103.1:g.19434T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-38T>C	ENSP00000247933.4:n.494-38T>C
ENST00000514224.2:c.494-38T>C MANE Select	ENSP00000425081.2:n.494-38T>C
ENST00000652070.1:n.550-38T>C
ENST00000247933.8:c.494-38T>C	ENSP00000247933.4:n.494-38T>C
ENST00000502910.5:c.353-38T>C	ENSP00000422952.1:n.353-38T>C
ENST00000504568.5:c.454-38T>C
ENST00000509948.5:c.287-38T>C	ENSP00000424227.1:n.287-38T>C
ENST00000514192.5:c.311-38T>C	ENSP00000423685.1:n.311-38T>C
ENST00000514224.1:c.98-38T>C	ENSP00000425081.1:n.98-38T>C
ENST00000514698.5:n.394-38T>C
NM_000203.4:c.494-38T>C	NP_000194.2:n.494-38T>C
NR_110313.1:n.582-38T>C
XM_006713882.2:c.98-38T>C	XP_006713945.1:n.98-38T>C
XM_011513459.1:c.353-38T>C	XP_011511761.1:n.353-38T>C
XM_011513460.1:c.353-38T>C	XP_011511762.1:n.353-38T>C
XM_011513461.1:c.287-38T>C	XP_011511763.1:n.287-38T>C
XM_011513462.1:c.206-38T>C	XP_011511764.1:n.206-38T>C
XM_011513463.1:c.206-38T>C	XP_011511765.1:n.206-38T>C
XR_924947.1:n.563-38T>C
NM_000203.5:c.494-38T>C MANE Select	NP_000194.2:n.494-38T>C
NM_001363576.1:c.98-38T>C	NP_001350505.1:n.98-38T>C
XM_011513461.2:c.287-38T>C	XP_011511763.1:n.287-38T>C
XM_017008163.1:c.-533T>C	XP_016863652.1:n.-533T>C