Canonical Allele Identifier: CA355965266

Gene: IDUA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1714C>T	ENSP00000247933.4:p.His572Tyr
ENST00000514224.2:c.1714C>T MANE Select	ENSP00000425081.2:p.His572Tyr
ENST00000652070.1:n.1770C>T
ENST00000247933.8:c.1714C>T	ENSP00000247933.4:p.His572Tyr
ENST00000514224.1:c.1318C>T	ENSP00000425081.1:p.His440Tyr
ENST00000514417.1:n.106C>T
ENST00000514698.5:n.1821C>T
NM_000203.4:c.1714C>T	NP_000194.2:p.His572Tyr
NR_110313.1:n.1802C>T
XM_006713882.2:c.1318C>T	XP_006713945.1:p.His440Tyr
XM_011513459.1:c.1780C>T	XP_011511761.1:p.His594Tyr
XM_011513460.1:c.1573C>T	XP_011511762.1:p.His525Tyr
XM_011513461.1:c.1507C>T	XP_011511763.1:p.His503Tyr
XM_011513462.1:c.1426C>T	XP_011511764.1:p.His476Tyr
XM_011513463.1:c.1426C>T	XP_011511765.1:p.His476Tyr
XR_924947.1:n.1970C>T
NM_000203.5:c.1714C>T MANE Select	NP_000194.2:p.His572Tyr
NM_001363576.1:c.1318C>T	NP_001350505.1:p.His440Tyr
XM_011513461.2:c.1507C>T	XP_011511763.1:p.His503Tyr
XM_017008163.1:c.754C>T	XP_016863652.1:p.His252Tyr