Canonical Allele Identifier: CA2802157

Gene: IDUA

Linked Data

• dbSNP Id: rs768189258
• ExAC: 4:996070 A / G
• gnomAD v2: 4-996070-A-G
• gnomAD v4: 4-1002282-A-G
• MyVariant Identifiers: chr4:g.996070A>G (hg19) ; chr4:g.1002282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002282A>G , CM000666.2:g.1002282A>G	GRCh38
NC_000004.11:g.996070A>G , CM000666.1:g.996070A>G	GRCh37
NC_000004.10:g.986070A>G	NCBI36
NG_008103.1:g.20286A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.986A>G	ENSP00000247933.4:p.His329Arg
ENST00000514224.2:c.986A>G MANE Select	ENSP00000425081.2:p.His329Arg
ENST00000652070.1:n.1042A>G
ENST00000247933.8:c.986A>G	ENSP00000247933.4:p.His329Arg
ENST00000514224.1:c.590A>G	ENSP00000425081.1:p.His197Arg
ENST00000514698.5:n.1093A>G
NM_000203.4:c.986A>G	NP_000194.2:p.His329Arg
NR_110313.1:n.1074A>G
XM_006713882.2:c.590A>G	XP_006713945.1:p.His197Arg
XM_011513459.1:c.1052A>G	XP_011511761.1:p.His351Arg
XM_011513460.1:c.845A>G	XP_011511762.1:p.His282Arg
XM_011513461.1:c.779A>G	XP_011511763.1:p.His260Arg
XM_011513462.1:c.698A>G	XP_011511764.1:p.His233Arg
XM_011513463.1:c.698A>G	XP_011511765.1:p.His233Arg
XR_924947.1:n.1055A>G
NM_000203.5:c.986A>G MANE Select	NP_000194.2:p.His329Arg
NM_001363576.1:c.590A>G	NP_001350505.1:p.His197Arg
XM_011513461.2:c.779A>G	XP_011511763.1:p.His260Arg
XM_017008163.1:c.26A>G	XP_016863652.1:p.His9Arg