Canonical Allele Identifier: CA2802033

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1436435
• ClinVar RCV Id: RCV002002109
• dbSNP Id: rs756131787
• ExAC: 4:995494 C / T
• gnomAD v2: 4-995494-C-T
• gnomAD v3: 4-1001706-C-T
• gnomAD v4: 4-1001706-C-T
• MyVariant Identifiers: chr4:g.995494C>T (hg19) ; chr4:g.1001706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001706C>T , CM000666.2:g.1001706C>T	GRCh38
NC_000004.11:g.995494C>T , CM000666.1:g.995494C>T	GRCh37
NC_000004.10:g.985494C>T	NCBI36
NG_008103.1:g.19710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.617C>T	ENSP00000247933.4:p.Ser206Leu
ENST00000514224.2:c.617C>T MANE Select	ENSP00000425081.2:p.Ser206Leu
ENST00000652070.1:n.673C>T
ENST00000247933.8:c.617C>T	ENSP00000247933.4:p.Ser206Leu
ENST00000502910.5:c.476C>T	ENSP00000422952.1:p.Ser159Leu
ENST00000504568.5:c.577C>T
ENST00000509948.5:c.410C>T	ENSP00000424227.1:p.Ser137Leu
ENST00000514192.5:c.434C>T	ENSP00000423685.1:p.Ser145Leu
ENST00000514224.1:c.221C>T	ENSP00000425081.1:p.Ser74Leu
ENST00000514698.5:n.517C>T
NM_000203.4:c.617C>T	NP_000194.2:p.Ser206Leu
NR_110313.1:n.705C>T
XM_006713882.2:c.221C>T	XP_006713945.1:p.Ser74Leu
XM_011513459.1:c.476C>T	XP_011511761.1:p.Ser159Leu
XM_011513460.1:c.476C>T	XP_011511762.1:p.Ser159Leu
XM_011513461.1:c.410C>T	XP_011511763.1:p.Ser137Leu
XM_011513462.1:c.329C>T	XP_011511764.1:p.Ser110Leu
XM_011513463.1:c.329C>T	XP_011511765.1:p.Ser110Leu
XR_924947.1:n.686C>T
NM_000203.5:c.617C>T MANE Select	NP_000194.2:p.Ser206Leu
NM_001363576.1:c.221C>T	NP_001350505.1:p.Ser74Leu
XM_011513461.2:c.410C>T	XP_011511763.1:p.Ser137Leu
XM_017008163.1:c.-344C>T	XP_016863652.1:n.-344C>T