Canonical Allele Identifier: CA355963538

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996529A>T (hg19) ; chr4:g.1002741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002741A>T , CM000666.2:g.1002741A>T	GRCh38
NC_000004.11:g.996529A>T , CM000666.1:g.996529A>T	GRCh37
NC_000004.10:g.986529A>T	NCBI36
NG_008103.1:g.20745A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1199A>T	ENSP00000247933.4:p.Gln400Leu
ENST00000514224.2:c.1199A>T MANE Select	ENSP00000425081.2:p.Gln400Leu
ENST00000652070.1:n.1255A>T
ENST00000247933.8:c.1199A>T	ENSP00000247933.4:p.Gln400Leu
ENST00000502829.1:n.1A>T
ENST00000514224.1:c.803A>T	ENSP00000425081.1:p.Gln268Leu
ENST00000514698.5:n.1306A>T
NM_000203.4:c.1199A>T	NP_000194.2:p.Gln400Leu
NR_110313.1:n.1287A>T
XM_006713882.2:c.803A>T	XP_006713945.1:p.Gln268Leu
XM_011513459.1:c.1265A>T	XP_011511761.1:p.Gln422Leu
XM_011513460.1:c.1058A>T	XP_011511762.1:p.Gln353Leu
XM_011513461.1:c.992A>T	XP_011511763.1:p.Gln331Leu
XM_011513462.1:c.911A>T	XP_011511764.1:p.Gln304Leu
XM_011513463.1:c.911A>T	XP_011511765.1:p.Gln304Leu
XR_924947.1:n.1268A>T
NM_000203.5:c.1199A>T MANE Select	NP_000194.2:p.Gln400Leu
NM_001363576.1:c.803A>T	NP_001350505.1:p.Gln268Leu
XM_011513461.2:c.992A>T	XP_011511763.1:p.Gln331Leu
XM_017008163.1:c.239A>T	XP_016863652.1:p.Gln80Leu