Canonical Allele Identifier: CA438057364

Gene: IDUA

Linked Data

• dbSNP Id: rs1276111758
• gnomAD v2: 4-996173-C-G
• gnomAD v4: 4-1002385-C-G
• MyVariant Identifiers: chr4:g.996173C>G (hg19) ; chr4:g.1002385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002385C>G , CM000666.2:g.1002385C>G	GRCh38
NC_000004.11:g.996173C>G , CM000666.1:g.996173C>G	GRCh37
NC_000004.10:g.986173C>G	NCBI36
NG_008103.1:g.20389C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1089C>G	ENSP00000247933.4:p.Arg363=
ENST00000514224.2:c.1089C>G MANE Select	ENSP00000425081.2:p.Arg363=
ENST00000652070.1:n.1145C>G
ENST00000247933.8:c.1089C>G	ENSP00000247933.4:p.Arg363=
ENST00000514224.1:c.693C>G	ENSP00000425081.1:p.Arg231=
ENST00000514698.5:n.1196C>G
NM_000203.4:c.1089C>G	NP_000194.2:p.Arg363=
NR_110313.1:n.1177C>G
XM_006713882.2:c.693C>G	XP_006713945.1:p.Arg231=
XM_011513459.1:c.1155C>G	XP_011511761.1:p.Arg385=
XM_011513460.1:c.948C>G	XP_011511762.1:p.Arg316=
XM_011513461.1:c.882C>G	XP_011511763.1:p.Arg294=
XM_011513462.1:c.801C>G	XP_011511764.1:p.Arg267=
XM_011513463.1:c.801C>G	XP_011511765.1:p.Arg267=
XR_924947.1:n.1158C>G
NM_000203.5:c.1089C>G MANE Select	NP_000194.2:p.Arg363=
NM_001363576.1:c.693C>G	NP_001350505.1:p.Arg231=
XM_011513461.2:c.882C>G	XP_011511763.1:p.Arg294=
XM_017008163.1:c.129C>G	XP_016863652.1:p.Arg43=