Canonical Allele Identifier: CA2802364

Gene: IDUA

Linked Data

• dbSNP Id: rs367982520
• ExAC: 4:997425 G / C
• gnomAD v2: 4-997425-G-C
• gnomAD v4: 4-1003637-G-C
• MyVariant Identifiers: chr4:g.997425G>C (hg19) ; chr4:g.1003637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003637G>C , CM000666.2:g.1003637G>C	GRCh38
NC_000004.11:g.997425G>C , CM000666.1:g.997425G>C	GRCh37
NC_000004.10:g.987425G>C	NCBI36
NG_008103.1:g.21641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+12G>C	ENSP00000247933.4:n.1727+12G>C
ENST00000514224.2:c.1727+12G>C MANE Select	ENSP00000425081.2:n.1727+12G>C
ENST00000652070.1:n.1783+12G>C
ENST00000247933.8:c.1727+12G>C	ENSP00000247933.4:n.1727+12G>C
ENST00000514224.1:c.1331+12G>C	ENSP00000425081.1:n.1331+12G>C
ENST00000514417.1:n.131G>C
ENST00000514698.5:n.1838+8G>C
NM_000203.4:c.1727+12G>C	NP_000194.2:n.1727+12G>C
NR_110313.1:n.1819+8G>C
XM_006713882.2:c.1331+12G>C	XP_006713945.1:n.1331+12G>C
XM_011513459.1:c.1793+12G>C	XP_011511761.1:n.1793+12G>C
XM_011513460.1:c.1586+12G>C	XP_011511762.1:n.1586+12G>C
XM_011513461.1:c.1520+12G>C	XP_011511763.1:n.1520+12G>C
XM_011513462.1:c.1439+12G>C	XP_011511764.1:n.1439+12G>C
XM_011513463.1:c.1439+12G>C	XP_011511765.1:n.1439+12G>C
XR_924947.1:n.1987+8G>C
NM_000203.5:c.1727+12G>C MANE Select	NP_000194.2:n.1727+12G>C
NM_001363576.1:c.1331+12G>C	NP_001350505.1:n.1331+12G>C
XM_011513461.2:c.1520+12G>C	XP_011511763.1:n.1520+12G>C
XM_017008163.1:c.767+12G>C	XP_016863652.1:n.767+12G>C