Canonical Allele Identifier: CA91167728

Gene: IDUA

Linked Data

• dbSNP Id: rs992408218
• gnomAD v4: 4-1001717-C-T
• COSMIC: COSM1210240
• MyVariant Identifiers: chr4:g.995505C>T (hg19) ; chr4:g.1001717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001717C>T , CM000666.2:g.1001717C>T	GRCh38
NC_000004.11:g.995505C>T , CM000666.1:g.995505C>T	GRCh37
NC_000004.10:g.985505C>T	NCBI36
NG_008103.1:g.19721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.628C>T	ENSP00000247933.4:p.Arg210Cys
ENST00000514224.2:c.628C>T MANE Select	ENSP00000425081.2:p.Arg210Cys
ENST00000652070.1:n.684C>T
ENST00000247933.8:c.628C>T	ENSP00000247933.4:p.Arg210Cys
ENST00000502910.5:c.487C>T	ENSP00000422952.1:p.Arg163Cys
ENST00000509948.5:c.421C>T	ENSP00000424227.1:p.Arg141Cys
ENST00000514192.5:c.445C>T	ENSP00000423685.1:p.Arg149Cys
ENST00000514224.1:c.232C>T	ENSP00000425081.1:p.Arg78Cys
ENST00000514698.5:n.528C>T
NM_000203.4:c.628C>T	NP_000194.2:p.Arg210Cys
NR_110313.1:n.716C>T
XM_006713882.2:c.232C>T	XP_006713945.1:p.Arg78Cys
XM_011513459.1:c.487C>T	XP_011511761.1:p.Arg163Cys
XM_011513460.1:c.487C>T	XP_011511762.1:p.Arg163Cys
XM_011513461.1:c.421C>T	XP_011511763.1:p.Arg141Cys
XM_011513462.1:c.340C>T	XP_011511764.1:p.Arg114Cys
XM_011513463.1:c.340C>T	XP_011511765.1:p.Arg114Cys
XR_924947.1:n.697C>T
NM_000203.5:c.628C>T MANE Select	NP_000194.2:p.Arg210Cys
NM_001363576.1:c.232C>T	NP_001350505.1:p.Arg78Cys
XM_011513461.2:c.421C>T	XP_011511763.1:p.Arg141Cys
XM_017008163.1:c.-333C>T	XP_016863652.1:n.-333C>T