Canonical Allele Identifier: CA438057433

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995796G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002008G>A , CM000666.2:g.1002008G>A	GRCh38
NC_000004.11:g.995796G>A , CM000666.1:g.995796G>A	GRCh37
NC_000004.10:g.985796G>A	NCBI36
NG_008103.1:g.20012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.819G>A	ENSP00000247933.4:p.Leu273=
ENST00000514224.2:c.819G>A MANE Select	ENSP00000425081.2:p.Leu273=
ENST00000652070.1:n.875G>A
ENST00000247933.8:c.819G>A	ENSP00000247933.4:p.Leu273=
ENST00000514192.5:c.636G>A	ENSP00000423685.1:p.Leu212=
ENST00000514224.1:c.423G>A	ENSP00000425081.1:p.Leu141=
ENST00000514698.5:n.819G>A
NM_000203.4:c.819G>A	NP_000194.2:p.Leu273=
NR_110313.1:n.907G>A
XM_006713882.2:c.423G>A	XP_006713945.1:p.Leu141=
XM_011513459.1:c.778G>A	XP_011511761.1:p.Gly260Arg
XM_011513460.1:c.678G>A	XP_011511762.1:p.Leu226=
XM_011513461.1:c.612G>A	XP_011511763.1:p.Leu204=
XM_011513462.1:c.531G>A	XP_011511764.1:p.Leu177=
XM_011513463.1:c.531G>A	XP_011511765.1:p.Leu177=
XR_924947.1:n.888G>A
NM_000203.5:c.819G>A MANE Select	NP_000194.2:p.Leu273=
NM_001363576.1:c.423G>A	NP_001350505.1:p.Leu141=
XM_011513461.2:c.612G>A	XP_011511763.1:p.Leu204=
XM_017008163.1:c.-142G>A	XP_016863652.1:n.-142G>A