Canonical Allele Identifier: CA355962941

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996066C>T (hg19) ; chr4:g.1002278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002278C>T , CM000666.2:g.1002278C>T	GRCh38
NC_000004.11:g.996066C>T , CM000666.1:g.996066C>T	GRCh37
NC_000004.10:g.986066C>T	NCBI36
NG_008103.1:g.20282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.982C>T	ENSP00000247933.4:p.Gln328Ter
ENST00000514224.2:c.982C>T MANE Select	ENSP00000425081.2:p.Gln328Ter
ENST00000652070.1:n.1038C>T
ENST00000247933.8:c.982C>T	ENSP00000247933.4:p.Gln328Ter
ENST00000514224.1:c.586C>T	ENSP00000425081.1:p.Gln196Ter
ENST00000514698.5:n.1089C>T
NM_000203.4:c.982C>T	NP_000194.2:p.Gln328Ter
NR_110313.1:n.1070C>T
XM_006713882.2:c.586C>T	XP_006713945.1:p.Gln196Ter
XM_011513459.1:c.1048C>T	XP_011511761.1:p.Gln350Ter
XM_011513460.1:c.841C>T	XP_011511762.1:p.Gln281Ter
XM_011513461.1:c.775C>T	XP_011511763.1:p.Gln259Ter
XM_011513462.1:c.694C>T	XP_011511764.1:p.Gln232Ter
XM_011513463.1:c.694C>T	XP_011511765.1:p.Gln232Ter
XR_924947.1:n.1051C>T
NM_000203.5:c.982C>T MANE Select	NP_000194.2:p.Gln328Ter
NM_001363576.1:c.586C>T	NP_001350505.1:p.Gln196Ter
XM_011513461.2:c.775C>T	XP_011511763.1:p.Gln259Ter
XM_017008163.1:c.22C>T	XP_016863652.1:p.Gln8Ter