Canonical Allele Identifier: CA355961925

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995488C>T (hg19) ; chr4:g.1001700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001700C>T , CM000666.2:g.1001700C>T	GRCh38
NC_000004.11:g.995488C>T , CM000666.1:g.995488C>T	GRCh37
NC_000004.10:g.985488C>T	NCBI36
NG_008103.1:g.19704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.611C>T	ENSP00000247933.4:p.Ala204Val
ENST00000514224.2:c.611C>T MANE Select	ENSP00000425081.2:p.Ala204Val
ENST00000652070.1:n.667C>T
ENST00000247933.8:c.611C>T	ENSP00000247933.4:p.Ala204Val
ENST00000502910.5:c.470C>T	ENSP00000422952.1:p.Ala157Val
ENST00000504568.5:c.571C>T
ENST00000509948.5:c.404C>T	ENSP00000424227.1:p.Ala135Val
ENST00000514192.5:c.428C>T	ENSP00000423685.1:p.Ala143Val
ENST00000514224.1:c.215C>T	ENSP00000425081.1:p.Ala72Val
ENST00000514698.5:n.511C>T
NM_000203.4:c.611C>T	NP_000194.2:p.Ala204Val
NR_110313.1:n.699C>T
XM_006713882.2:c.215C>T	XP_006713945.1:p.Ala72Val
XM_011513459.1:c.470C>T	XP_011511761.1:p.Ala157Val
XM_011513460.1:c.470C>T	XP_011511762.1:p.Ala157Val
XM_011513461.1:c.404C>T	XP_011511763.1:p.Ala135Val
XM_011513462.1:c.323C>T	XP_011511764.1:p.Ala108Val
XM_011513463.1:c.323C>T	XP_011511765.1:p.Ala108Val
XR_924947.1:n.680C>T
NM_000203.5:c.611C>T MANE Select	NP_000194.2:p.Ala204Val
NM_001363576.1:c.215C>T	NP_001350505.1:p.Ala72Val
XM_011513461.2:c.404C>T	XP_011511763.1:p.Ala135Val
XM_017008163.1:c.-350C>T	XP_016863652.1:n.-350C>T