Canonical Allele Identifier: CA355962947

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002279-A-T
• MyVariant Identifiers: chr4:g.996067A>T (hg19) ; chr4:g.1002279A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002279A>T , CM000666.2:g.1002279A>T	GRCh38
NC_000004.11:g.996067A>T , CM000666.1:g.996067A>T	GRCh37
NC_000004.10:g.986067A>T	NCBI36
NG_008103.1:g.20283A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.983A>T	ENSP00000247933.4:p.Gln328Leu
ENST00000514224.2:c.983A>T MANE Select	ENSP00000425081.2:p.Gln328Leu
ENST00000652070.1:n.1039A>T
ENST00000247933.8:c.983A>T	ENSP00000247933.4:p.Gln328Leu
ENST00000514224.1:c.587A>T	ENSP00000425081.1:p.Gln196Leu
ENST00000514698.5:n.1090A>T
NM_000203.4:c.983A>T	NP_000194.2:p.Gln328Leu
NR_110313.1:n.1071A>T
XM_006713882.2:c.587A>T	XP_006713945.1:p.Gln196Leu
XM_011513459.1:c.1049A>T	XP_011511761.1:p.Gln350Leu
XM_011513460.1:c.842A>T	XP_011511762.1:p.Gln281Leu
XM_011513461.1:c.776A>T	XP_011511763.1:p.Gln259Leu
XM_011513462.1:c.695A>T	XP_011511764.1:p.Gln232Leu
XM_011513463.1:c.695A>T	XP_011511765.1:p.Gln232Leu
XR_924947.1:n.1052A>T
NM_000203.5:c.983A>T MANE Select	NP_000194.2:p.Gln328Leu
NM_001363576.1:c.587A>T	NP_001350505.1:p.Gln196Leu
XM_011513461.2:c.776A>T	XP_011511763.1:p.Gln259Leu
XM_017008163.1:c.23A>T	XP_016863652.1:p.Gln8Leu