Canonical Allele Identifier: CA355964974

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997172G>T (hg19) ; chr4:g.1003384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003384G>T , CM000666.2:g.1003384G>T	GRCh38
NC_000004.11:g.997172G>T , CM000666.1:g.997172G>T	GRCh37
NC_000004.10:g.987172G>T	NCBI36
NG_008103.1:g.21388G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1564G>T	ENSP00000247933.4:p.Gly522Cys
ENST00000514224.2:c.1564G>T MANE Select	ENSP00000425081.2:p.Gly522Cys
ENST00000652070.1:n.1620G>T
ENST00000247933.8:c.1564G>T	ENSP00000247933.4:p.Gly522Cys
ENST00000502829.1:n.553G>T
ENST00000514224.1:c.1168G>T	ENSP00000425081.1:p.Gly390Cys
ENST00000514698.5:n.1671G>T
NM_000203.4:c.1564G>T	NP_000194.2:p.Gly522Cys
NR_110313.1:n.1652G>T
XM_006713882.2:c.1168G>T	XP_006713945.1:p.Gly390Cys
XM_011513459.1:c.1630G>T	XP_011511761.1:p.Gly544Cys
XM_011513460.1:c.1423G>T	XP_011511762.1:p.Gly475Cys
XM_011513461.1:c.1357G>T	XP_011511763.1:p.Gly453Cys
XM_011513462.1:c.1276G>T	XP_011511764.1:p.Gly426Cys
XM_011513463.1:c.1276G>T	XP_011511765.1:p.Gly426Cys
XR_924947.1:n.1820G>T
NM_000203.5:c.1564G>T MANE Select	NP_000194.2:p.Gly522Cys
NM_001363576.1:c.1168G>T	NP_001350505.1:p.Gly390Cys
XM_011513461.2:c.1357G>T	XP_011511763.1:p.Gly453Cys
XM_017008163.1:c.604G>T	XP_016863652.1:p.Gly202Cys