Canonical Allele Identifier: CA438058105

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997411C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003623C>T , CM000666.2:g.1003623C>T	GRCh38
NC_000004.11:g.997411C>T , CM000666.1:g.997411C>T	GRCh37
NC_000004.10:g.987411C>T	NCBI36
NG_008103.1:g.21627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1725C>T	ENSP00000247933.4:p.Ser575=
ENST00000514224.2:c.1725C>T MANE Select	ENSP00000425081.2:p.Ser575=
ENST00000652070.1:n.1781C>T
ENST00000247933.8:c.1725C>T	ENSP00000247933.4:p.Ser575=
ENST00000514224.1:c.1329C>T	ENSP00000425081.1:p.Ser443=
ENST00000514417.1:n.117C>T
ENST00000514698.5:n.1832C>T
NM_000203.4:c.1725C>T	NP_000194.2:p.Ser575=
NR_110313.1:n.1813C>T
XM_006713882.2:c.1329C>T	XP_006713945.1:p.Ser443=
XM_011513459.1:c.1791C>T	XP_011511761.1:p.Ser597=
XM_011513460.1:c.1584C>T	XP_011511762.1:p.Ser528=
XM_011513461.1:c.1518C>T	XP_011511763.1:p.Ser506=
XM_011513462.1:c.1437C>T	XP_011511764.1:p.Ser479=
XM_011513463.1:c.1437C>T	XP_011511765.1:p.Ser479=
XR_924947.1:n.1981C>T
NM_000203.5:c.1725C>T MANE Select	NP_000194.2:p.Ser575=
NM_001363576.1:c.1329C>T	NP_001350505.1:p.Ser443=
XM_011513461.2:c.1518C>T	XP_011511763.1:p.Ser506=
XM_017008163.1:c.765C>T	XP_016863652.1:p.Ser255=