Canonical Allele Identifier: CA355961794

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001542-A-T
• MyVariant Identifiers: chr4:g.995330A>T (hg19) ; chr4:g.1001542A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.568A>T	ENSP00000247933.4:p.Asn190Tyr
ENST00000514224.2:c.568A>T MANE Select	ENSP00000425081.2:p.Asn190Tyr
ENST00000652070.1:n.624A>T
ENST00000247933.8:c.568A>T	ENSP00000247933.4:p.Asn190Tyr
ENST00000502910.5:c.427A>T	ENSP00000422952.1:p.Asn143Tyr
ENST00000504568.5:c.528A>T
ENST00000509948.5:c.361A>T	ENSP00000424227.1:p.Asn121Tyr
ENST00000514192.5:c.385A>T	ENSP00000423685.1:p.Asn129Tyr
ENST00000514224.1:c.172A>T	ENSP00000425081.1:p.Asn58Tyr
ENST00000514698.5:n.468A>T
NM_000203.4:c.568A>T	NP_000194.2:p.Asn190Tyr
NR_110313.1:n.656A>T
XM_006713882.2:c.172A>T	XP_006713945.1:p.Asn58Tyr
XM_011513459.1:c.427A>T	XP_011511761.1:p.Asn143Tyr
XM_011513460.1:c.427A>T	XP_011511762.1:p.Asn143Tyr
XM_011513461.1:c.361A>T	XP_011511763.1:p.Asn121Tyr
XM_011513462.1:c.280A>T	XP_011511764.1:p.Asn94Tyr
XM_011513463.1:c.280A>T	XP_011511765.1:p.Asn94Tyr
XR_924947.1:n.637A>T
NM_000203.5:c.568A>T MANE Select	NP_000194.2:p.Asn190Tyr
NM_001363576.1:c.172A>T	NP_001350505.1:p.Asn58Tyr
XM_011513461.2:c.361A>T	XP_011511763.1:p.Asn121Tyr
XM_017008163.1:c.-421A>T	XP_016863652.1:n.-421A>T