Canonical Allele Identifier: CA355962471

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002067-C-T
• MyVariant Identifiers: chr4:g.995855C>T (hg19) ; chr4:g.1002067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002067C>T , CM000666.2:g.1002067C>T	GRCh38
NC_000004.11:g.995855C>T , CM000666.1:g.995855C>T	GRCh37
NC_000004.10:g.985855C>T	NCBI36
NG_008103.1:g.20071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.878C>T	ENSP00000247933.4:p.Thr293Ile
ENST00000514224.2:c.878C>T MANE Select	ENSP00000425081.2:p.Thr293Ile
ENST00000652070.1:n.934C>T
ENST00000247933.8:c.878C>T	ENSP00000247933.4:p.Thr293Ile
ENST00000514192.5:c.695C>T	ENSP00000423685.1:p.Thr232Ile
ENST00000514224.1:c.482C>T	ENSP00000425081.1:p.Thr161Ile
ENST00000514698.5:n.878C>T
NM_000203.4:c.878C>T	NP_000194.2:p.Thr293Ile
NR_110313.1:n.966C>T
XM_006713882.2:c.482C>T	XP_006713945.1:p.Thr161Ile
XM_011513459.1:c.837C>T	XP_011511761.1:p.His279=
XM_011513460.1:c.737C>T	XP_011511762.1:p.Thr246Ile
XM_011513461.1:c.671C>T	XP_011511763.1:p.Thr224Ile
XM_011513462.1:c.590C>T	XP_011511764.1:p.Thr197Ile
XM_011513463.1:c.590C>T	XP_011511765.1:p.Thr197Ile
XR_924947.1:n.947C>T
NM_000203.5:c.878C>T MANE Select	NP_000194.2:p.Thr293Ile
NM_001363576.1:c.482C>T	NP_001350505.1:p.Thr161Ile
XM_011513461.2:c.671C>T	XP_011511763.1:p.Thr224Ile
XM_017008163.1:c.-83C>T	XP_016863652.1:n.-83C>T