Canonical Allele Identifier: CA355963361

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002410-A-G
• MyVariant Identifiers: chr4:g.996198A>G (hg19) ; chr4:g.1002410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002410A>G , CM000666.2:g.1002410A>G	GRCh38
NC_000004.11:g.996198A>G , CM000666.1:g.996198A>G	GRCh37
NC_000004.10:g.986198A>G	NCBI36
NG_008103.1:g.20414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1114A>G	ENSP00000247933.4:p.Asn372Asp
ENST00000514224.2:c.1114A>G MANE Select	ENSP00000425081.2:p.Asn372Asp
ENST00000652070.1:n.1170A>G
ENST00000247933.8:c.1114A>G	ENSP00000247933.4:p.Asn372Asp
ENST00000514224.1:c.718A>G	ENSP00000425081.1:p.Asn240Asp
ENST00000514698.5:n.1221A>G
NM_000203.4:c.1114A>G	NP_000194.2:p.Asn372Asp
NR_110313.1:n.1202A>G
XM_006713882.2:c.718A>G	XP_006713945.1:p.Asn240Asp
XM_011513459.1:c.1180A>G	XP_011511761.1:p.Asn394Asp
XM_011513460.1:c.973A>G	XP_011511762.1:p.Asn325Asp
XM_011513461.1:c.907A>G	XP_011511763.1:p.Asn303Asp
XM_011513462.1:c.826A>G	XP_011511764.1:p.Asn276Asp
XM_011513463.1:c.826A>G	XP_011511765.1:p.Asn276Asp
XR_924947.1:n.1183A>G
NM_000203.5:c.1114A>G MANE Select	NP_000194.2:p.Asn372Asp
NM_001363576.1:c.718A>G	NP_001350505.1:p.Asn240Asp
XM_011513461.2:c.907A>G	XP_011511763.1:p.Asn303Asp
XM_017008163.1:c.154A>G	XP_016863652.1:p.Asn52Asp