Canonical Allele Identifier: CA355965194

Gene: IDUA

Linked Data

• dbSNP Id: rs773249605
• MyVariant Identifiers: chr4:g.997365C>G (hg19) ; chr4:g.1003577C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003577C>G , CM000666.2:g.1003577C>G	GRCh38
NC_000004.11:g.997365C>G , CM000666.1:g.997365C>G	GRCh37
NC_000004.10:g.987365C>G	NCBI36
NG_008103.1:g.21581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1679C>G	ENSP00000247933.4:p.Thr560Ser
ENST00000514224.2:c.1679C>G MANE Select	ENSP00000425081.2:p.Thr560Ser
ENST00000652070.1:n.1735C>G
ENST00000247933.8:c.1679C>G	ENSP00000247933.4:p.Thr560Ser
ENST00000514224.1:c.1283C>G	ENSP00000425081.1:p.Thr428Ser
ENST00000514417.1:n.71C>G
ENST00000514698.5:n.1786C>G
NM_000203.4:c.1679C>G	NP_000194.2:p.Thr560Ser
NR_110313.1:n.1767C>G
XM_006713882.2:c.1283C>G	XP_006713945.1:p.Thr428Ser
XM_011513459.1:c.1745C>G	XP_011511761.1:p.Thr582Ser
XM_011513460.1:c.1538C>G	XP_011511762.1:p.Thr513Ser
XM_011513461.1:c.1472C>G	XP_011511763.1:p.Thr491Ser
XM_011513462.1:c.1391C>G	XP_011511764.1:p.Thr464Ser
XM_011513463.1:c.1391C>G	XP_011511765.1:p.Thr464Ser
XR_924947.1:n.1935C>G
NM_000203.5:c.1679C>G MANE Select	NP_000194.2:p.Thr560Ser
NM_001363576.1:c.1283C>G	NP_001350505.1:p.Thr428Ser
XM_011513461.2:c.1472C>G	XP_011511763.1:p.Thr491Ser
XM_017008163.1:c.719C>G	XP_016863652.1:p.Thr240Ser