Canonical Allele Identifier: CA267584

Gene: IDUA

Linked Data

• ClinVar Variation Id: 100723
• ClinVar RCV Id: RCV000087088 ; RCV002515779 ; RCV003129777
• dbSNP Id: rs587779401
• MyVariant Identifiers: chr4:g.998093A>G (hg19) ; chr4:g.1004305A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004305A>G , CM000666.2:g.1004305A>G	GRCh38
NC_000004.11:g.998093A>G , CM000666.1:g.998093A>G	GRCh37
NC_000004.10:g.988093A>G	NCBI36
NG_008103.1:g.22309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1874A>G	ENSP00000247933.4:p.Tyr625Cys
ENST00000514224.2:c.1874A>G MANE Select	ENSP00000425081.2:p.Tyr625Cys
ENST00000652070.1:n.1930A>G
ENST00000247933.8:c.1874A>G	ENSP00000247933.4:p.Tyr625Cys
ENST00000514224.1:c.1478A>G	ENSP00000425081.1:p.Tyr493Cys
ENST00000514698.5:n.1985A>G
NM_000203.4:c.1874A>G	NP_000194.2:p.Tyr625Cys
NR_110313.1:n.1966A>G
XM_006713882.2:c.1478A>G	XP_006713945.1:p.Tyr493Cys
XM_011513459.1:c.1940A>G	XP_011511761.1:p.Tyr647Cys
XM_011513460.1:c.1733A>G	XP_011511762.1:p.Tyr578Cys
XM_011513461.1:c.1667A>G	XP_011511763.1:p.Tyr556Cys
XM_011513462.1:c.1586A>G	XP_011511764.1:p.Tyr529Cys
XM_011513463.1:c.1586A>G	XP_011511765.1:p.Tyr529Cys
XR_924947.1:n.2134A>G
NM_000203.5:c.1874A>G MANE Select	NP_000194.2:p.Tyr625Cys
NM_001363576.1:c.1478A>G	NP_001350505.1:p.Tyr493Cys
XM_011513461.2:c.1667A>G	XP_011511763.1:p.Tyr556Cys
XM_017008163.1:c.914A>G	XP_016863652.1:p.Tyr305Cys