Canonical Allele Identifier: CA355965239

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997389G>C (hg19) ; chr4:g.1003601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003601G>C , CM000666.2:g.1003601G>C	GRCh38
NC_000004.11:g.997389G>C , CM000666.1:g.997389G>C	GRCh37
NC_000004.10:g.987389G>C	NCBI36
NG_008103.1:g.21605G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1703G>C	ENSP00000247933.4:p.Trp568Ser
ENST00000514224.2:c.1703G>C MANE Select	ENSP00000425081.2:p.Trp568Ser
ENST00000652070.1:n.1759G>C
ENST00000247933.8:c.1703G>C	ENSP00000247933.4:p.Trp568Ser
ENST00000514224.1:c.1307G>C	ENSP00000425081.1:p.Trp436Ser
ENST00000514417.1:n.95G>C
ENST00000514698.5:n.1810G>C
NM_000203.4:c.1703G>C	NP_000194.2:p.Trp568Ser
NR_110313.1:n.1791G>C
XM_006713882.2:c.1307G>C	XP_006713945.1:p.Trp436Ser
XM_011513459.1:c.1769G>C	XP_011511761.1:p.Trp590Ser
XM_011513460.1:c.1562G>C	XP_011511762.1:p.Trp521Ser
XM_011513461.1:c.1496G>C	XP_011511763.1:p.Trp499Ser
XM_011513462.1:c.1415G>C	XP_011511764.1:p.Trp472Ser
XM_011513463.1:c.1415G>C	XP_011511765.1:p.Trp472Ser
XR_924947.1:n.1959G>C
NM_000203.5:c.1703G>C MANE Select	NP_000194.2:p.Trp568Ser
NM_001363576.1:c.1307G>C	NP_001350505.1:p.Trp436Ser
XM_011513461.2:c.1496G>C	XP_011511763.1:p.Trp499Ser
XM_017008163.1:c.743G>C	XP_016863652.1:p.Trp248Ser