Canonical Allele Identifier: CA2669482962

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003533-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003533C>T , CM000666.2:g.1003533C>T	GRCh38
NC_000004.11:g.997321C>T , CM000666.1:g.997321C>T	GRCh37
NC_000004.10:g.987321C>T	NCBI36
NG_008103.1:g.21537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1651-16C>T	ENSP00000247933.4:n.1651-16C>T
ENST00000514224.2:c.1651-16C>T MANE Select	ENSP00000425081.2:n.1651-16C>T
ENST00000652070.1:n.1707-16C>T
ENST00000247933.8:c.1651-16C>T	ENSP00000247933.4:n.1651-16C>T
ENST00000514224.1:c.1255-16C>T	ENSP00000425081.1:n.1255-16C>T
ENST00000514417.1:n.43-16C>T
ENST00000514698.5:n.1758-16C>T
NM_000203.4:c.1651-16C>T	NP_000194.2:n.1651-16C>T
NR_110313.1:n.1739-16C>T
XM_006713882.2:c.1255-16C>T	XP_006713945.1:n.1255-16C>T
XM_011513459.1:c.1717-16C>T	XP_011511761.1:n.1717-16C>T
XM_011513460.1:c.1510-16C>T	XP_011511762.1:n.1510-16C>T
XM_011513461.1:c.1444-16C>T	XP_011511763.1:n.1444-16C>T
XM_011513462.1:c.1363-16C>T	XP_011511764.1:n.1363-16C>T
XM_011513463.1:c.1363-16C>T	XP_011511765.1:n.1363-16C>T
XR_924947.1:n.1907-16C>T
NM_000203.5:c.1651-16C>T MANE Select	NP_000194.2:n.1651-16C>T
NM_001363576.1:c.1255-16C>T	NP_001350505.1:n.1255-16C>T
XM_011513461.2:c.1444-16C>T	XP_011511763.1:n.1444-16C>T
XM_017008163.1:c.691-16C>T	XP_016863652.1:n.691-16C>T