Canonical Allele Identifier: CA2801961

Gene: IDUA

Linked Data

• dbSNP Id: rs760447114
• ExAC: 4:995228 C / T
• gnomAD v2: 4-995228-C-T
• gnomAD v4: 4-1001440-C-T
• MyVariant Identifiers: chr4:g.995228C>T (hg19) ; chr4:g.1001440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001440C>T , CM000666.2:g.1001440C>T	GRCh38
NC_000004.11:g.995228C>T , CM000666.1:g.995228C>T	GRCh37
NC_000004.10:g.985228C>T	NCBI36
NG_008103.1:g.19444C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-28C>T	ENSP00000247933.4:n.494-28C>T
ENST00000514224.2:c.494-28C>T MANE Select	ENSP00000425081.2:n.494-28C>T
ENST00000652070.1:n.550-28C>T
ENST00000247933.8:c.494-28C>T	ENSP00000247933.4:n.494-28C>T
ENST00000502910.5:c.353-28C>T	ENSP00000422952.1:n.353-28C>T
ENST00000504568.5:c.454-28C>T
ENST00000509948.5:c.287-28C>T	ENSP00000424227.1:n.287-28C>T
ENST00000514192.5:c.311-28C>T	ENSP00000423685.1:n.311-28C>T
ENST00000514224.1:c.98-28C>T	ENSP00000425081.1:n.98-28C>T
ENST00000514698.5:n.394-28C>T
NM_000203.4:c.494-28C>T	NP_000194.2:n.494-28C>T
NR_110313.1:n.582-28C>T
XM_006713882.2:c.98-28C>T	XP_006713945.1:n.98-28C>T
XM_011513459.1:c.353-28C>T	XP_011511761.1:n.353-28C>T
XM_011513460.1:c.353-28C>T	XP_011511762.1:n.353-28C>T
XM_011513461.1:c.287-28C>T	XP_011511763.1:n.287-28C>T
XM_011513462.1:c.206-28C>T	XP_011511764.1:n.206-28C>T
XM_011513463.1:c.206-28C>T	XP_011511765.1:n.206-28C>T
XR_924947.1:n.563-28C>T
NM_000203.5:c.494-28C>T MANE Select	NP_000194.2:n.494-28C>T
NM_001363576.1:c.98-28C>T	NP_001350505.1:n.98-28C>T
XM_011513461.2:c.287-28C>T	XP_011511763.1:n.287-28C>T
XM_017008163.1:c.-523C>T	XP_016863652.1:n.-523C>T