Canonical Allele Identifier: CA2669481354

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002176-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002176C>T , CM000666.2:g.1002176C>T	GRCh38
NC_000004.11:g.995964C>T , CM000666.1:g.995964C>T	GRCh37
NC_000004.10:g.985964C>T	NCBI36
NG_008103.1:g.20180C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+15C>T	ENSP00000247933.4:n.972+15C>T
ENST00000514224.2:c.972+15C>T MANE Select	ENSP00000425081.2:n.972+15C>T
ENST00000652070.1:n.1028+15C>T
ENST00000247933.8:c.972+15C>T	ENSP00000247933.4:n.972+15C>T
ENST00000514224.1:c.576+15C>T	ENSP00000425081.1:n.576+15C>T
ENST00000514698.5:n.987C>T
NM_000203.4:c.972+15C>T	NP_000194.2:n.972+15C>T
NR_110313.1:n.1060+15C>T
XM_006713882.2:c.576+15C>T	XP_006713945.1:n.576+15C>T
XM_011513459.1:c.946C>T	XP_011511761.1:p.Arg316Cys
XM_011513460.1:c.831+15C>T	XP_011511762.1:n.831+15C>T
XM_011513461.1:c.765+15C>T	XP_011511763.1:n.765+15C>T
XM_011513462.1:c.684+15C>T	XP_011511764.1:n.684+15C>T
XM_011513463.1:c.684+15C>T	XP_011511765.1:n.684+15C>T
XR_924947.1:n.1041+15C>T
NM_000203.5:c.972+15C>T MANE Select	NP_000194.2:n.972+15C>T
NM_001363576.1:c.576+15C>T	NP_001350505.1:n.576+15C>T
XM_011513461.2:c.765+15C>T	XP_011511763.1:n.765+15C>T
XM_017008163.1:c.12+15C>T	XP_016863652.1:n.12+15C>T