Canonical Allele Identifier: CA438057441

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995802G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002014G>A , CM000666.2:g.1002014G>A	GRCh38
NC_000004.11:g.995802G>A , CM000666.1:g.995802G>A	GRCh37
NC_000004.10:g.985802G>A	NCBI36
NG_008103.1:g.20018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.825G>A	ENSP00000247933.4:p.Gln275=
ENST00000514224.2:c.825G>A MANE Select	ENSP00000425081.2:p.Gln275=
ENST00000652070.1:n.881G>A
ENST00000247933.8:c.825G>A	ENSP00000247933.4:p.Gln275=
ENST00000514192.5:c.642G>A	ENSP00000423685.1:p.Gln214=
ENST00000514224.1:c.429G>A	ENSP00000425081.1:p.Gln143=
ENST00000514698.5:n.825G>A
NM_000203.4:c.825G>A	NP_000194.2:p.Gln275=
NR_110313.1:n.913G>A
XM_006713882.2:c.429G>A	XP_006713945.1:p.Gln143=
XM_011513459.1:c.784G>A	XP_011511761.1:p.Gly262Arg
XM_011513460.1:c.684G>A	XP_011511762.1:p.Gln228=
XM_011513461.1:c.618G>A	XP_011511763.1:p.Gln206=
XM_011513462.1:c.537G>A	XP_011511764.1:p.Gln179=
XM_011513463.1:c.537G>A	XP_011511765.1:p.Gln179=
XR_924947.1:n.894G>A
NM_000203.5:c.825G>A MANE Select	NP_000194.2:p.Gln275=
NM_001363576.1:c.429G>A	NP_001350505.1:p.Gln143=
XM_011513461.2:c.618G>A	XP_011511763.1:p.Gln206=
XM_017008163.1:c.-136G>A	XP_016863652.1:n.-136G>A