Canonical Allele Identifier: CA2801871

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2155520
• ClinVar RCV Id: RCV003090689
• dbSNP Id: rs3755955
• ExAC: 4:994414 G / C
• gnomAD v2: 4-994414-G-C
• gnomAD v3: 4-1000626-G-C
• gnomAD v4: 4-1000626-G-C
• MyVariant Identifiers: chr4:g.994414G>C (hg19) ; chr4:g.1000626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000626G>C , CM000666.2:g.1000626G>C	GRCh38
NC_000004.11:g.994414G>C , CM000666.1:g.994414G>C	GRCh37
NC_000004.10:g.984414G>C	NCBI36
NG_008103.1:g.18630G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.314G>C	ENSP00000247933.4:p.Arg105Pro
ENST00000514224.2:c.314G>C MANE Select	ENSP00000425081.2:p.Arg105Pro
ENST00000652070.1:n.370G>C
ENST00000247933.8:c.314G>C	ENSP00000247933.4:p.Arg105Pro
ENST00000502910.5:c.173G>C	ENSP00000422952.1:p.Arg58Pro
ENST00000504568.5:c.274G>C
ENST00000506561.5:n.323G>C
ENST00000508168.5:n.192G>C
ENST00000509948.5:c.107G>C	ENSP00000424227.1:p.Arg36Pro
ENST00000514192.5:c.131G>C	ENSP00000423685.1:p.Arg44Pro
ENST00000514224.1:c.-83G>C	ENSP00000425081.1:n.-83G>C
ENST00000514698.5:n.214G>C
NM_000203.4:c.314G>C	NP_000194.2:p.Arg105Pro
NR_110313.1:n.402G>C
XM_006713882.2:c.-83G>C	XP_006713945.1:n.-83G>C
XM_011513459.1:c.173G>C	XP_011511761.1:p.Arg58Pro
XM_011513460.1:c.173G>C	XP_011511762.1:p.Arg58Pro
XM_011513461.1:c.107G>C	XP_011511763.1:p.Arg36Pro
XM_011513462.1:c.-159G>C	XP_011511764.1:n.-159G>C
XM_011513463.1:c.-159G>C	XP_011511765.1:n.-159G>C
XR_924947.1:n.383G>C
NM_000203.5:c.314G>C MANE Select	NP_000194.2:p.Arg105Pro
NM_001363576.1:c.-83G>C	NP_001350505.1:n.-83G>C
XM_011513461.2:c.107G>C	XP_011511763.1:p.Arg36Pro
XM_017008163.1:c.-1153G>C	XP_016863652.1:n.-1153G>C