Canonical Allele Identifier: CA355962119

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001804-C-T
• COSMIC: COSM1431916 ; COSM5829984
• MyVariant Identifiers: chr4:g.995592C>T (hg19) ; chr4:g.1001804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001804C>T , CM000666.2:g.1001804C>T	GRCh38
NC_000004.11:g.995592C>T , CM000666.1:g.995592C>T	GRCh37
NC_000004.10:g.985592C>T	NCBI36
NG_008103.1:g.19808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.715C>T	ENSP00000247933.4:p.Arg239Cys
ENST00000514224.2:c.715C>T MANE Select	ENSP00000425081.2:p.Arg239Cys
ENST00000652070.1:n.771C>T
ENST00000247933.8:c.715C>T	ENSP00000247933.4:p.Arg239Cys
ENST00000502910.5:c.574C>T	ENSP00000422952.1:p.Arg192Cys
ENST00000509948.5:c.508C>T	ENSP00000424227.1:p.Arg170Cys
ENST00000514192.5:c.532C>T	ENSP00000423685.1:p.Arg178Cys
ENST00000514224.1:c.319C>T	ENSP00000425081.1:p.Arg107Cys
ENST00000514698.5:n.615C>T
NM_000203.4:c.715C>T	NP_000194.2:p.Arg239Cys
NR_110313.1:n.803C>T
XM_006713882.2:c.319C>T	XP_006713945.1:p.Arg107Cys
XM_011513459.1:c.574C>T	XP_011511761.1:p.Arg192Cys
XM_011513460.1:c.574C>T	XP_011511762.1:p.Arg192Cys
XM_011513461.1:c.508C>T	XP_011511763.1:p.Arg170Cys
XM_011513462.1:c.427C>T	XP_011511764.1:p.Arg143Cys
XM_011513463.1:c.427C>T	XP_011511765.1:p.Arg143Cys
XR_924947.1:n.784C>T
NM_000203.5:c.715C>T MANE Select	NP_000194.2:p.Arg239Cys
NM_001363576.1:c.319C>T	NP_001350505.1:p.Arg107Cys
XM_011513461.2:c.508C>T	XP_011511763.1:p.Arg170Cys
XM_017008163.1:c.-246C>T	XP_016863652.1:n.-246C>T