Canonical Allele Identifier: CA355965267

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997400C>A (hg19) ; chr4:g.1003612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003612C>A , CM000666.2:g.1003612C>A	GRCh38
NC_000004.11:g.997400C>A , CM000666.1:g.997400C>A	GRCh37
NC_000004.10:g.987400C>A	NCBI36
NG_008103.1:g.21616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1714C>A	ENSP00000247933.4:p.His572Asn
ENST00000514224.2:c.1714C>A MANE Select	ENSP00000425081.2:p.His572Asn
ENST00000652070.1:n.1770C>A
ENST00000247933.8:c.1714C>A	ENSP00000247933.4:p.His572Asn
ENST00000514224.1:c.1318C>A	ENSP00000425081.1:p.His440Asn
ENST00000514417.1:n.106C>A
ENST00000514698.5:n.1821C>A
NM_000203.4:c.1714C>A	NP_000194.2:p.His572Asn
NR_110313.1:n.1802C>A
XM_006713882.2:c.1318C>A	XP_006713945.1:p.His440Asn
XM_011513459.1:c.1780C>A	XP_011511761.1:p.His594Asn
XM_011513460.1:c.1573C>A	XP_011511762.1:p.His525Asn
XM_011513461.1:c.1507C>A	XP_011511763.1:p.His503Asn
XM_011513462.1:c.1426C>A	XP_011511764.1:p.His476Asn
XM_011513463.1:c.1426C>A	XP_011511765.1:p.His476Asn
XR_924947.1:n.1970C>A
NM_000203.5:c.1714C>A MANE Select	NP_000194.2:p.His572Asn
NM_001363576.1:c.1318C>A	NP_001350505.1:p.His440Asn
XM_011513461.2:c.1507C>A	XP_011511763.1:p.His503Asn
XM_017008163.1:c.754C>A	XP_016863652.1:p.His252Asn