Canonical Allele Identifier: CA438057561

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995934G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002146G>T , CM000666.2:g.1002146G>T	GRCh38
NC_000004.11:g.995934G>T , CM000666.1:g.995934G>T	GRCh37
NC_000004.10:g.985934G>T	NCBI36
NG_008103.1:g.20150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.957G>T	ENSP00000247933.4:p.Ala319=
ENST00000514224.2:c.957G>T MANE Select	ENSP00000425081.2:p.Ala319=
ENST00000652070.1:n.1013G>T
ENST00000247933.8:c.957G>T	ENSP00000247933.4:p.Ala319=
ENST00000514224.1:c.561G>T	ENSP00000425081.1:p.Ala187=
ENST00000514698.5:n.957G>T
NM_000203.4:c.957G>T	NP_000194.2:p.Ala319=
NR_110313.1:n.1045G>T
XM_006713882.2:c.561G>T	XP_006713945.1:p.Ala187=
XM_011513459.1:c.916G>T	XP_011511761.1:p.Gly306Cys
XM_011513460.1:c.816G>T	XP_011511762.1:p.Ala272=
XM_011513461.1:c.750G>T	XP_011511763.1:p.Ala250=
XM_011513462.1:c.669G>T	XP_011511764.1:p.Ala223=
XM_011513463.1:c.669G>T	XP_011511765.1:p.Ala223=
XR_924947.1:n.1026G>T
NM_000203.5:c.957G>T MANE Select	NP_000194.2:p.Ala319=
NM_001363576.1:c.561G>T	NP_001350505.1:p.Ala187=
XM_011513461.2:c.750G>T	XP_011511763.1:p.Ala250=
XM_017008163.1:c.-4G>T	XP_016863652.1:n.-4G>T