Canonical Allele Identifier: CA91166948

Gene: IDUA

Linked Data

• dbSNP Id: rs952048293
• gnomAD v4: 4-1001437-G-C
• MyVariant Identifiers: chr4:g.995225G>C (hg19) ; chr4:g.1001437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001437G>C , CM000666.2:g.1001437G>C	GRCh38
NC_000004.11:g.995225G>C , CM000666.1:g.995225G>C	GRCh37
NC_000004.10:g.985225G>C	NCBI36
NG_008103.1:g.19441G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-31G>C	ENSP00000247933.4:n.494-31G>C
ENST00000514224.2:c.494-31G>C MANE Select	ENSP00000425081.2:n.494-31G>C
ENST00000652070.1:n.550-31G>C
ENST00000247933.8:c.494-31G>C	ENSP00000247933.4:n.494-31G>C
ENST00000502910.5:c.353-31G>C	ENSP00000422952.1:n.353-31G>C
ENST00000504568.5:c.454-31G>C
ENST00000509948.5:c.287-31G>C	ENSP00000424227.1:n.287-31G>C
ENST00000514192.5:c.311-31G>C	ENSP00000423685.1:n.311-31G>C
ENST00000514224.1:c.98-31G>C	ENSP00000425081.1:n.98-31G>C
ENST00000514698.5:n.394-31G>C
NM_000203.4:c.494-31G>C	NP_000194.2:n.494-31G>C
NR_110313.1:n.582-31G>C
XM_006713882.2:c.98-31G>C	XP_006713945.1:n.98-31G>C
XM_011513459.1:c.353-31G>C	XP_011511761.1:n.353-31G>C
XM_011513460.1:c.353-31G>C	XP_011511762.1:n.353-31G>C
XM_011513461.1:c.287-31G>C	XP_011511763.1:n.287-31G>C
XM_011513462.1:c.206-31G>C	XP_011511764.1:n.206-31G>C
XM_011513463.1:c.206-31G>C	XP_011511765.1:n.206-31G>C
XR_924947.1:n.563-31G>C
NM_000203.5:c.494-31G>C MANE Select	NP_000194.2:n.494-31G>C
NM_001363576.1:c.98-31G>C	NP_001350505.1:n.98-31G>C
XM_011513461.2:c.287-31G>C	XP_011511763.1:n.287-31G>C
XM_017008163.1:c.-526G>C	XP_016863652.1:n.-526G>C