Canonical Allele Identifier: CA355963026

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996091A>T (hg19) ; chr4:g.1002303A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002303A>T , CM000666.2:g.1002303A>T	GRCh38
NC_000004.11:g.996091A>T , CM000666.1:g.996091A>T	GRCh37
NC_000004.10:g.986091A>T	NCBI36
NG_008103.1:g.20307A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1007A>T	ENSP00000247933.4:p.Asn336Ile
ENST00000514224.2:c.1007A>T MANE Select	ENSP00000425081.2:p.Asn336Ile
ENST00000652070.1:n.1063A>T
ENST00000247933.8:c.1007A>T	ENSP00000247933.4:p.Asn336Ile
ENST00000514224.1:c.611A>T	ENSP00000425081.1:p.Asn204Ile
ENST00000514698.5:n.1114A>T
NM_000203.4:c.1007A>T	NP_000194.2:p.Asn336Ile
NR_110313.1:n.1095A>T
XM_006713882.2:c.611A>T	XP_006713945.1:p.Asn204Ile
XM_011513459.1:c.1073A>T	XP_011511761.1:p.Asn358Ile
XM_011513460.1:c.866A>T	XP_011511762.1:p.Asn289Ile
XM_011513461.1:c.800A>T	XP_011511763.1:p.Asn267Ile
XM_011513462.1:c.719A>T	XP_011511764.1:p.Asn240Ile
XM_011513463.1:c.719A>T	XP_011511765.1:p.Asn240Ile
XR_924947.1:n.1076A>T
NM_000203.5:c.1007A>T MANE Select	NP_000194.2:p.Asn336Ile
NM_001363576.1:c.611A>T	NP_001350505.1:p.Asn204Ile
XM_011513461.2:c.800A>T	XP_011511763.1:p.Asn267Ile
XM_017008163.1:c.47A>T	XP_016863652.1:p.Asn16Ile