Canonical Allele Identifier: CA355965206

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997371G>T (hg19) ; chr4:g.1003583G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003583G>T , CM000666.2:g.1003583G>T	GRCh38
NC_000004.11:g.997371G>T , CM000666.1:g.997371G>T	GRCh37
NC_000004.10:g.987371G>T	NCBI36
NG_008103.1:g.21587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1685G>T	ENSP00000247933.4:p.Gly562Val
ENST00000514224.2:c.1685G>T MANE Select	ENSP00000425081.2:p.Gly562Val
ENST00000652070.1:n.1741G>T
ENST00000247933.8:c.1685G>T	ENSP00000247933.4:p.Gly562Val
ENST00000514224.1:c.1289G>T	ENSP00000425081.1:p.Gly430Val
ENST00000514417.1:n.77G>T
ENST00000514698.5:n.1792G>T
NM_000203.4:c.1685G>T	NP_000194.2:p.Gly562Val
NR_110313.1:n.1773G>T
XM_006713882.2:c.1289G>T	XP_006713945.1:p.Gly430Val
XM_011513459.1:c.1751G>T	XP_011511761.1:p.Gly584Val
XM_011513460.1:c.1544G>T	XP_011511762.1:p.Gly515Val
XM_011513461.1:c.1478G>T	XP_011511763.1:p.Gly493Val
XM_011513462.1:c.1397G>T	XP_011511764.1:p.Gly466Val
XM_011513463.1:c.1397G>T	XP_011511765.1:p.Gly466Val
XR_924947.1:n.1941G>T
NM_000203.5:c.1685G>T MANE Select	NP_000194.2:p.Gly562Val
NM_001363576.1:c.1289G>T	NP_001350505.1:p.Gly430Val
XM_011513461.2:c.1478G>T	XP_011511763.1:p.Gly493Val
XM_017008163.1:c.725G>T	XP_016863652.1:p.Gly242Val