Canonical Allele Identifier: CA355961757

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001528-A-G
• MyVariant Identifiers: chr4:g.995316A>G (hg19) ; chr4:g.1001528A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001528A>G , CM000666.2:g.1001528A>G	GRCh38
NC_000004.11:g.995316A>G , CM000666.1:g.995316A>G	GRCh37
NC_000004.10:g.985316A>G	NCBI36
NG_008103.1:g.19532A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.554A>G	ENSP00000247933.4:p.His185Arg
ENST00000514224.2:c.554A>G MANE Select	ENSP00000425081.2:p.His185Arg
ENST00000652070.1:n.610A>G
ENST00000247933.8:c.554A>G	ENSP00000247933.4:p.His185Arg
ENST00000502910.5:c.413A>G	ENSP00000422952.1:p.His138Arg
ENST00000504568.5:c.514A>G
ENST00000509948.5:c.347A>G	ENSP00000424227.1:p.His116Arg
ENST00000514192.5:c.371A>G	ENSP00000423685.1:p.His124Arg
ENST00000514224.1:c.158A>G	ENSP00000425081.1:p.His53Arg
ENST00000514698.5:n.454A>G
NM_000203.4:c.554A>G	NP_000194.2:p.His185Arg
NR_110313.1:n.642A>G
XM_006713882.2:c.158A>G	XP_006713945.1:p.His53Arg
XM_011513459.1:c.413A>G	XP_011511761.1:p.His138Arg
XM_011513460.1:c.413A>G	XP_011511762.1:p.His138Arg
XM_011513461.1:c.347A>G	XP_011511763.1:p.His116Arg
XM_011513462.1:c.266A>G	XP_011511764.1:p.His89Arg
XM_011513463.1:c.266A>G	XP_011511765.1:p.His89Arg
XR_924947.1:n.623A>G
NM_000203.5:c.554A>G MANE Select	NP_000194.2:p.His185Arg
NM_001363576.1:c.158A>G	NP_001350505.1:p.His53Arg
XM_011513461.2:c.347A>G	XP_011511763.1:p.His116Arg
XM_017008163.1:c.-435A>G	XP_016863652.1:n.-435A>G