Canonical Allele Identifier: CA2802347

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2151983
• ClinVar RCV Id: RCV003079052 ; RCV003134621
• dbSNP Id: rs776276938
• ExAC: 4:997350 G / A
• gnomAD v2: 4-997350-G-A
• gnomAD v4: 4-1003562-G-A
• MyVariant Identifiers: chr4:g.997350G>A (hg19) ; chr4:g.1003562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003562G>A , CM000666.2:g.1003562G>A	GRCh38
NC_000004.11:g.997350G>A , CM000666.1:g.997350G>A	GRCh37
NC_000004.10:g.987350G>A	NCBI36
NG_008103.1:g.21566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1664G>A	ENSP00000247933.4:p.Arg555His
ENST00000514224.2:c.1664G>A MANE Select	ENSP00000425081.2:p.Arg555His
ENST00000652070.1:n.1720G>A
ENST00000247933.8:c.1664G>A	ENSP00000247933.4:p.Arg555His
ENST00000514224.1:c.1268G>A	ENSP00000425081.1:p.Arg423His
ENST00000514417.1:n.56G>A
ENST00000514698.5:n.1771G>A
NM_000203.4:c.1664G>A	NP_000194.2:p.Arg555His
NR_110313.1:n.1752G>A
XM_006713882.2:c.1268G>A	XP_006713945.1:p.Arg423His
XM_011513459.1:c.1730G>A	XP_011511761.1:p.Arg577His
XM_011513460.1:c.1523G>A	XP_011511762.1:p.Arg508His
XM_011513461.1:c.1457G>A	XP_011511763.1:p.Arg486His
XM_011513462.1:c.1376G>A	XP_011511764.1:p.Arg459His
XM_011513463.1:c.1376G>A	XP_011511765.1:p.Arg459His
XR_924947.1:n.1920G>A
NM_000203.5:c.1664G>A MANE Select	NP_000194.2:p.Arg555His
NM_001363576.1:c.1268G>A	NP_001350505.1:p.Arg423His
XM_011513461.2:c.1457G>A	XP_011511763.1:p.Arg486His
XM_017008163.1:c.704G>A	XP_016863652.1:p.Arg235His