Canonical Allele Identifier: CA355961793

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995330A>G (hg19) ; chr4:g.1001542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001542A>G , CM000666.2:g.1001542A>G	GRCh38
NC_000004.11:g.995330A>G , CM000666.1:g.995330A>G	GRCh37
NC_000004.10:g.985330A>G	NCBI36
NG_008103.1:g.19546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.568A>G	ENSP00000247933.4:p.Asn190Asp
ENST00000514224.2:c.568A>G MANE Select	ENSP00000425081.2:p.Asn190Asp
ENST00000652070.1:n.624A>G
ENST00000247933.8:c.568A>G	ENSP00000247933.4:p.Asn190Asp
ENST00000502910.5:c.427A>G	ENSP00000422952.1:p.Asn143Asp
ENST00000504568.5:c.528A>G
ENST00000509948.5:c.361A>G	ENSP00000424227.1:p.Asn121Asp
ENST00000514192.5:c.385A>G	ENSP00000423685.1:p.Asn129Asp
ENST00000514224.1:c.172A>G	ENSP00000425081.1:p.Asn58Asp
ENST00000514698.5:n.468A>G
NM_000203.4:c.568A>G	NP_000194.2:p.Asn190Asp
NR_110313.1:n.656A>G
XM_006713882.2:c.172A>G	XP_006713945.1:p.Asn58Asp
XM_011513459.1:c.427A>G	XP_011511761.1:p.Asn143Asp
XM_011513460.1:c.427A>G	XP_011511762.1:p.Asn143Asp
XM_011513461.1:c.361A>G	XP_011511763.1:p.Asn121Asp
XM_011513462.1:c.280A>G	XP_011511764.1:p.Asn94Asp
XM_011513463.1:c.280A>G	XP_011511765.1:p.Asn94Asp
XR_924947.1:n.637A>G
NM_000203.5:c.568A>G MANE Select	NP_000194.2:p.Asn190Asp
NM_001363576.1:c.172A>G	NP_001350505.1:p.Asn58Asp
XM_011513461.2:c.361A>G	XP_011511763.1:p.Asn121Asp
XM_017008163.1:c.-421A>G	XP_016863652.1:n.-421A>G