Canonical Allele Identifier: CA355961972

Gene: IDUA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.637A>G	ENSP00000247933.4:p.Ser213Gly
ENST00000514224.2:c.637A>G MANE Select	ENSP00000425081.2:p.Ser213Gly
ENST00000652070.1:n.693A>G
ENST00000247933.8:c.637A>G	ENSP00000247933.4:p.Ser213Gly
ENST00000502910.5:c.496A>G	ENSP00000422952.1:p.Ser166Gly
ENST00000509948.5:c.430A>G	ENSP00000424227.1:p.Ser144Gly
ENST00000514192.5:c.454A>G	ENSP00000423685.1:p.Ser152Gly
ENST00000514224.1:c.241A>G	ENSP00000425081.1:p.Ser81Gly
ENST00000514698.5:n.537A>G
NM_000203.4:c.637A>G	NP_000194.2:p.Ser213Gly
NR_110313.1:n.725A>G
XM_006713882.2:c.241A>G	XP_006713945.1:p.Ser81Gly
XM_011513459.1:c.496A>G	XP_011511761.1:p.Ser166Gly
XM_011513460.1:c.496A>G	XP_011511762.1:p.Ser166Gly
XM_011513461.1:c.430A>G	XP_011511763.1:p.Ser144Gly
XM_011513462.1:c.349A>G	XP_011511764.1:p.Ser117Gly
XM_011513463.1:c.349A>G	XP_011511765.1:p.Ser117Gly
XR_924947.1:n.706A>G
NM_000203.5:c.637A>G MANE Select	NP_000194.2:p.Ser213Gly
NM_001363576.1:c.241A>G	NP_001350505.1:p.Ser81Gly
XM_011513461.2:c.430A>G	XP_011511763.1:p.Ser144Gly
XM_017008163.1:c.-324A>G	XP_016863652.1:n.-324A>G