Canonical Allele Identifier: CA355962148

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001816-G-T
• MyVariant Identifiers: chr4:g.995604G>T (hg19) ; chr4:g.1001816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001816G>T , CM000666.2:g.1001816G>T	GRCh38
NC_000004.11:g.995604G>T , CM000666.1:g.995604G>T	GRCh37
NC_000004.10:g.985604G>T	NCBI36
NG_008103.1:g.19820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.727G>T	ENSP00000247933.4:p.Asp243Tyr
ENST00000514224.2:c.727G>T MANE Select	ENSP00000425081.2:p.Asp243Tyr
ENST00000652070.1:n.783G>T
ENST00000247933.8:c.727G>T	ENSP00000247933.4:p.Asp243Tyr
ENST00000502910.5:c.586G>T	ENSP00000422952.1:p.Asp196Tyr
ENST00000509948.5:c.520G>T	ENSP00000424227.1:p.Asp174Tyr
ENST00000514192.5:c.544G>T	ENSP00000423685.1:p.Asp182Tyr
ENST00000514224.1:c.331G>T	ENSP00000425081.1:p.Asp111Tyr
ENST00000514698.5:n.627G>T
NM_000203.4:c.727G>T	NP_000194.2:p.Asp243Tyr
NR_110313.1:n.815G>T
XM_006713882.2:c.331G>T	XP_006713945.1:p.Asp111Tyr
XM_011513459.1:c.586G>T	XP_011511761.1:p.Asp196Tyr
XM_011513460.1:c.586G>T	XP_011511762.1:p.Asp196Tyr
XM_011513461.1:c.520G>T	XP_011511763.1:p.Asp174Tyr
XM_011513462.1:c.439G>T	XP_011511764.1:p.Asp147Tyr
XM_011513463.1:c.439G>T	XP_011511765.1:p.Asp147Tyr
XR_924947.1:n.796G>T
NM_000203.5:c.727G>T MANE Select	NP_000194.2:p.Asp243Tyr
NM_001363576.1:c.331G>T	NP_001350505.1:p.Asp111Tyr
XM_011513461.2:c.520G>T	XP_011511763.1:p.Asp174Tyr
XM_017008163.1:c.-234G>T	XP_016863652.1:n.-234G>T