Canonical Allele Identifier: CA355961798

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995332C>G (hg19) ; chr4:g.1001544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001544C>G , CM000666.2:g.1001544C>G	GRCh38
NC_000004.11:g.995332C>G , CM000666.1:g.995332C>G	GRCh37
NC_000004.10:g.985332C>G	NCBI36
NG_008103.1:g.19548C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.570C>G	ENSP00000247933.4:p.Asn190Lys
ENST00000514224.2:c.570C>G MANE Select	ENSP00000425081.2:p.Asn190Lys
ENST00000652070.1:n.626C>G
ENST00000247933.8:c.570C>G	ENSP00000247933.4:p.Asn190Lys
ENST00000502910.5:c.429C>G	ENSP00000422952.1:p.Asn143Lys
ENST00000504568.5:c.530C>G
ENST00000509948.5:c.363C>G	ENSP00000424227.1:p.Asn121Lys
ENST00000514192.5:c.387C>G	ENSP00000423685.1:p.Asn129Lys
ENST00000514224.1:c.174C>G	ENSP00000425081.1:p.Asn58Lys
ENST00000514698.5:n.470C>G
NM_000203.4:c.570C>G	NP_000194.2:p.Asn190Lys
NR_110313.1:n.658C>G
XM_006713882.2:c.174C>G	XP_006713945.1:p.Asn58Lys
XM_011513459.1:c.429C>G	XP_011511761.1:p.Asn143Lys
XM_011513460.1:c.429C>G	XP_011511762.1:p.Asn143Lys
XM_011513461.1:c.363C>G	XP_011511763.1:p.Asn121Lys
XM_011513462.1:c.282C>G	XP_011511764.1:p.Asn94Lys
XM_011513463.1:c.282C>G	XP_011511765.1:p.Asn94Lys
XR_924947.1:n.639C>G
NM_000203.5:c.570C>G MANE Select	NP_000194.2:p.Asn190Lys
NM_001363576.1:c.174C>G	NP_001350505.1:p.Asn58Lys
XM_011513461.2:c.363C>G	XP_011511763.1:p.Asn121Lys
XM_017008163.1:c.-419C>G	XP_016863652.1:n.-419C>G