Canonical Allele Identifier: CA355962203

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995630G>T (hg19) ; chr4:g.1001842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001842G>T , CM000666.2:g.1001842G>T	GRCh38
NC_000004.11:g.995630G>T , CM000666.1:g.995630G>T	GRCh37
NC_000004.10:g.985630G>T	NCBI36
NG_008103.1:g.19846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.753G>T	ENSP00000247933.4:p.Glu251Asp
ENST00000514224.2:c.753G>T MANE Select	ENSP00000425081.2:p.Glu251Asp
ENST00000652070.1:n.809G>T
ENST00000247933.8:c.753G>T	ENSP00000247933.4:p.Glu251Asp
ENST00000502910.5:c.612G>T	ENSP00000422952.1:p.Glu204Asp
ENST00000514192.5:c.570G>T	ENSP00000423685.1:p.Glu190Asp
ENST00000514224.1:c.357G>T	ENSP00000425081.1:p.Glu119Asp
ENST00000514698.5:n.653G>T
NM_000203.4:c.753G>T	NP_000194.2:p.Glu251Asp
NR_110313.1:n.841G>T
XM_006713882.2:c.357G>T	XP_006713945.1:p.Glu119Asp
XM_011513459.1:c.612G>T	XP_011511761.1:p.Glu204Asp
XM_011513460.1:c.612G>T	XP_011511762.1:p.Glu204Asp
XM_011513461.1:c.546G>T	XP_011511763.1:p.Glu182Asp
XM_011513462.1:c.465G>T	XP_011511764.1:p.Glu155Asp
XM_011513463.1:c.465G>T	XP_011511765.1:p.Glu155Asp
XR_924947.1:n.822G>T
NM_000203.5:c.753G>T MANE Select	NP_000194.2:p.Glu251Asp
NM_001363576.1:c.357G>T	NP_001350505.1:p.Glu119Asp
XM_011513461.2:c.546G>T	XP_011511763.1:p.Glu182Asp
XM_017008163.1:c.-208G>T	XP_016863652.1:n.-208G>T