Canonical Allele Identifier: CA355963604

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002771-C-T
• MyVariant Identifiers: chr4:g.996559C>T (hg19) ; chr4:g.1002771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002771C>T , CM000666.2:g.1002771C>T	GRCh38
NC_000004.11:g.996559C>T , CM000666.1:g.996559C>T	GRCh37
NC_000004.10:g.986559C>T	NCBI36
NG_008103.1:g.20775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1229C>T	ENSP00000247933.4:p.Thr410Ile
ENST00000514224.2:c.1229C>T MANE Select	ENSP00000425081.2:p.Thr410Ile
ENST00000652070.1:n.1285C>T
ENST00000247933.8:c.1229C>T	ENSP00000247933.4:p.Thr410Ile
ENST00000502829.1:n.31C>T
ENST00000514224.1:c.833C>T	ENSP00000425081.1:p.Thr278Ile
ENST00000514698.5:n.1336C>T
NM_000203.4:c.1229C>T	NP_000194.2:p.Thr410Ile
NR_110313.1:n.1317C>T
XM_006713882.2:c.833C>T	XP_006713945.1:p.Thr278Ile
XM_011513459.1:c.1295C>T	XP_011511761.1:p.Thr432Ile
XM_011513460.1:c.1088C>T	XP_011511762.1:p.Thr363Ile
XM_011513461.1:c.1022C>T	XP_011511763.1:p.Thr341Ile
XM_011513462.1:c.941C>T	XP_011511764.1:p.Thr314Ile
XM_011513463.1:c.941C>T	XP_011511765.1:p.Thr314Ile
XR_924947.1:n.1298C>T
NM_000203.5:c.1229C>T MANE Select	NP_000194.2:p.Thr410Ile
NM_001363576.1:c.833C>T	NP_001350505.1:p.Thr278Ile
XM_011513461.2:c.1022C>T	XP_011511763.1:p.Thr341Ile
XM_017008163.1:c.269C>T	XP_016863652.1:p.Thr90Ile