Canonical Allele Identifier: CA2669480016

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001892-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001892C>T , CM000666.2:g.1001892C>T	GRCh38
NC_000004.11:g.995680C>T , CM000666.1:g.995680C>T	GRCh37
NC_000004.10:g.985680C>T	NCBI36
NG_008103.1:g.19896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.792+11C>T	ENSP00000247933.4:n.792+11C>T
ENST00000514224.2:c.792+11C>T MANE Select	ENSP00000425081.2:n.792+11C>T
ENST00000652070.1:n.848+11C>T
ENST00000247933.8:c.792+11C>T	ENSP00000247933.4:n.792+11C>T
ENST00000502910.5:c.651+11C>T	ENSP00000422952.1:n.651+11C>T
ENST00000514192.5:c.609+11C>T	ENSP00000423685.1:n.609+11C>T
ENST00000514224.1:c.396+11C>T	ENSP00000425081.1:n.396+11C>T
ENST00000514698.5:n.703C>T
NM_000203.4:c.792+11C>T	NP_000194.2:n.792+11C>T
NR_110313.1:n.880+11C>T
XM_006713882.2:c.396+11C>T	XP_006713945.1:n.396+11C>T
XM_011513459.1:c.662C>T	XP_011511761.1:p.Ala221Val
XM_011513460.1:c.651+11C>T	XP_011511762.1:n.651+11C>T
XM_011513461.1:c.585+11C>T	XP_011511763.1:n.585+11C>T
XM_011513462.1:c.504+11C>T	XP_011511764.1:n.504+11C>T
XM_011513463.1:c.504+11C>T	XP_011511765.1:n.504+11C>T
XR_924947.1:n.861+11C>T
NM_000203.5:c.792+11C>T MANE Select	NP_000194.2:n.792+11C>T
NM_001363576.1:c.396+11C>T	NP_001350505.1:n.396+11C>T
XM_011513461.2:c.585+11C>T	XP_011511763.1:n.585+11C>T
XM_017008163.1:c.-169+11C>T	XP_016863652.1:n.-169+11C>T