Canonical Allele Identifier: CA355961770

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995321G>T (hg19) ; chr4:g.1001533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001533G>T , CM000666.2:g.1001533G>T	GRCh38
NC_000004.11:g.995321G>T , CM000666.1:g.995321G>T	GRCh37
NC_000004.10:g.985321G>T	NCBI36
NG_008103.1:g.19537G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.559G>T	ENSP00000247933.4:p.Asp187Tyr
ENST00000514224.2:c.559G>T MANE Select	ENSP00000425081.2:p.Asp187Tyr
ENST00000652070.1:n.615G>T
ENST00000247933.8:c.559G>T	ENSP00000247933.4:p.Asp187Tyr
ENST00000502910.5:c.418G>T	ENSP00000422952.1:p.Asp140Tyr
ENST00000504568.5:c.519G>T
ENST00000509948.5:c.352G>T	ENSP00000424227.1:p.Asp118Tyr
ENST00000514192.5:c.376G>T	ENSP00000423685.1:p.Asp126Tyr
ENST00000514224.1:c.163G>T	ENSP00000425081.1:p.Asp55Tyr
ENST00000514698.5:n.459G>T
NM_000203.4:c.559G>T	NP_000194.2:p.Asp187Tyr
NR_110313.1:n.647G>T
XM_006713882.2:c.163G>T	XP_006713945.1:p.Asp55Tyr
XM_011513459.1:c.418G>T	XP_011511761.1:p.Asp140Tyr
XM_011513460.1:c.418G>T	XP_011511762.1:p.Asp140Tyr
XM_011513461.1:c.352G>T	XP_011511763.1:p.Asp118Tyr
XM_011513462.1:c.271G>T	XP_011511764.1:p.Asp91Tyr
XM_011513463.1:c.271G>T	XP_011511765.1:p.Asp91Tyr
XR_924947.1:n.628G>T
NM_000203.5:c.559G>T MANE Select	NP_000194.2:p.Asp187Tyr
NM_001363576.1:c.163G>T	NP_001350505.1:p.Asp55Tyr
XM_011513461.2:c.352G>T	XP_011511763.1:p.Asp118Tyr
XM_017008163.1:c.-430G>T	XP_016863652.1:n.-430G>T