Canonical Allele Identifier: CA355962455

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002061-C-A
• MyVariant Identifiers: chr4:g.995849C>A (hg19) ; chr4:g.1002061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002061C>A , CM000666.2:g.1002061C>A	GRCh38
NC_000004.11:g.995849C>A , CM000666.1:g.995849C>A	GRCh37
NC_000004.10:g.985849C>A	NCBI36
NG_008103.1:g.20065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.872C>A	ENSP00000247933.4:p.Ala291Glu
ENST00000514224.2:c.872C>A MANE Select	ENSP00000425081.2:p.Ala291Glu
ENST00000652070.1:n.928C>A
ENST00000247933.8:c.872C>A	ENSP00000247933.4:p.Ala291Glu
ENST00000514192.5:c.689C>A	ENSP00000423685.1:p.Ala230Glu
ENST00000514224.1:c.476C>A	ENSP00000425081.1:p.Ala159Glu
ENST00000514698.5:n.872C>A
NM_000203.4:c.872C>A	NP_000194.2:p.Ala291Glu
NR_110313.1:n.960C>A
XM_006713882.2:c.476C>A	XP_006713945.1:p.Ala159Glu
XM_011513459.1:c.831C>A	XP_011511761.1:p.Arg277=
XM_011513460.1:c.731C>A	XP_011511762.1:p.Ala244Glu
XM_011513461.1:c.665C>A	XP_011511763.1:p.Ala222Glu
XM_011513462.1:c.584C>A	XP_011511764.1:p.Ala195Glu
XM_011513463.1:c.584C>A	XP_011511765.1:p.Ala195Glu
XR_924947.1:n.941C>A
NM_000203.5:c.872C>A MANE Select	NP_000194.2:p.Ala291Glu
NM_001363576.1:c.476C>A	NP_001350505.1:p.Ala159Glu
XM_011513461.2:c.665C>A	XP_011511763.1:p.Ala222Glu
XM_017008163.1:c.-89C>A	XP_016863652.1:n.-89C>A