Canonical Allele Identifier: CA2802038

Gene: IDUA

Linked Data

• ClinVar Variation Id: 350222
• ClinVar RCV Id: RCV000305549 ; RCV003298408 ; RCV003437114
• dbSNP Id: rs376012666
• ExAC: 4:995507 C / T
• gnomAD v2: 4-995507-C-T
• gnomAD v3: 4-1001719-C-T
• gnomAD v4: 4-1001719-C-T
• COSMIC: COSM3409642 ; COSM3409643
• MyVariant Identifiers: chr4:g.995507C>T (hg19) ; chr4:g.1001719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001719C>T , CM000666.2:g.1001719C>T	GRCh38
NC_000004.11:g.995507C>T , CM000666.1:g.995507C>T	GRCh37
NC_000004.10:g.985507C>T	NCBI36
NG_008103.1:g.19723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.630C>T	ENSP00000247933.4:p.Arg210=
ENST00000514224.2:c.630C>T MANE Select	ENSP00000425081.2:p.Arg210=
ENST00000652070.1:n.686C>T
ENST00000247933.8:c.630C>T	ENSP00000247933.4:p.Arg210=
ENST00000502910.5:c.489C>T	ENSP00000422952.1:p.Arg163=
ENST00000509948.5:c.423C>T	ENSP00000424227.1:p.Arg141=
ENST00000514192.5:c.447C>T	ENSP00000423685.1:p.Arg149=
ENST00000514224.1:c.234C>T	ENSP00000425081.1:p.Arg78=
ENST00000514698.5:n.530C>T
NM_000203.4:c.630C>T	NP_000194.2:p.Arg210=
NR_110313.1:n.718C>T
XM_006713882.2:c.234C>T	XP_006713945.1:p.Arg78=
XM_011513459.1:c.489C>T	XP_011511761.1:p.Arg163=
XM_011513460.1:c.489C>T	XP_011511762.1:p.Arg163=
XM_011513461.1:c.423C>T	XP_011511763.1:p.Arg141=
XM_011513462.1:c.342C>T	XP_011511764.1:p.Arg114=
XM_011513463.1:c.342C>T	XP_011511765.1:p.Arg114=
XR_924947.1:n.699C>T
NM_000203.5:c.630C>T MANE Select	NP_000194.2:p.Arg210=
NM_001363576.1:c.234C>T	NP_001350505.1:p.Arg78=
XM_011513461.2:c.423C>T	XP_011511763.1:p.Arg141=
XM_017008163.1:c.-331C>T	XP_016863652.1:n.-331C>T