Canonical Allele Identifier: CA355961973

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995514A>T (hg19) ; chr4:g.1001726A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001726A>T , CM000666.2:g.1001726A>T	GRCh38
NC_000004.11:g.995514A>T , CM000666.1:g.995514A>T	GRCh37
NC_000004.10:g.985514A>T	NCBI36
NG_008103.1:g.19730A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.637A>T	ENSP00000247933.4:p.Ser213Cys
ENST00000514224.2:c.637A>T MANE Select	ENSP00000425081.2:p.Ser213Cys
ENST00000652070.1:n.693A>T
ENST00000247933.8:c.637A>T	ENSP00000247933.4:p.Ser213Cys
ENST00000502910.5:c.496A>T	ENSP00000422952.1:p.Ser166Cys
ENST00000509948.5:c.430A>T	ENSP00000424227.1:p.Ser144Cys
ENST00000514192.5:c.454A>T	ENSP00000423685.1:p.Ser152Cys
ENST00000514224.1:c.241A>T	ENSP00000425081.1:p.Ser81Cys
ENST00000514698.5:n.537A>T
NM_000203.4:c.637A>T	NP_000194.2:p.Ser213Cys
NR_110313.1:n.725A>T
XM_006713882.2:c.241A>T	XP_006713945.1:p.Ser81Cys
XM_011513459.1:c.496A>T	XP_011511761.1:p.Ser166Cys
XM_011513460.1:c.496A>T	XP_011511762.1:p.Ser166Cys
XM_011513461.1:c.430A>T	XP_011511763.1:p.Ser144Cys
XM_011513462.1:c.349A>T	XP_011511764.1:p.Ser117Cys
XM_011513463.1:c.349A>T	XP_011511765.1:p.Ser117Cys
XR_924947.1:n.706A>T
NM_000203.5:c.637A>T MANE Select	NP_000194.2:p.Ser213Cys
NM_001363576.1:c.241A>T	NP_001350505.1:p.Ser81Cys
XM_011513461.2:c.430A>T	XP_011511763.1:p.Ser144Cys
XM_017008163.1:c.-324A>T	XP_016863652.1:n.-324A>T