Canonical Allele Identifier: CA438057254

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995522C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001734C>T , CM000666.2:g.1001734C>T	GRCh38
NC_000004.11:g.995522C>T , CM000666.1:g.995522C>T	GRCh37
NC_000004.10:g.985522C>T	NCBI36
NG_008103.1:g.19738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.645C>T	ENSP00000247933.4:p.Ala215=
ENST00000514224.2:c.645C>T MANE Select	ENSP00000425081.2:p.Ala215=
ENST00000652070.1:n.701C>T
ENST00000247933.8:c.645C>T	ENSP00000247933.4:p.Ala215=
ENST00000502910.5:c.504C>T	ENSP00000422952.1:p.Ala168=
ENST00000509948.5:c.438C>T	ENSP00000424227.1:p.Ala146=
ENST00000514192.5:c.462C>T	ENSP00000423685.1:p.Ala154=
ENST00000514224.1:c.249C>T	ENSP00000425081.1:p.Ala83=
ENST00000514698.5:n.545C>T
NM_000203.4:c.645C>T	NP_000194.2:p.Ala215=
NR_110313.1:n.733C>T
XM_006713882.2:c.249C>T	XP_006713945.1:p.Ala83=
XM_011513459.1:c.504C>T	XP_011511761.1:p.Ala168=
XM_011513460.1:c.504C>T	XP_011511762.1:p.Ala168=
XM_011513461.1:c.438C>T	XP_011511763.1:p.Ala146=
XM_011513462.1:c.357C>T	XP_011511764.1:p.Ala119=
XM_011513463.1:c.357C>T	XP_011511765.1:p.Ala119=
XR_924947.1:n.714C>T
NM_000203.5:c.645C>T MANE Select	NP_000194.2:p.Ala215=
NM_001363576.1:c.249C>T	NP_001350505.1:p.Ala83=
XM_011513461.2:c.438C>T	XP_011511763.1:p.Ala146=
XM_017008163.1:c.-316C>T	XP_016863652.1:n.-316C>T