Canonical Allele Identifier: CA355964856

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1520186
• ClinVar RCV Id: RCV002043892
• dbSNP Id: rs2153022881
• MyVariant Identifiers: chr4:g.997131A>C (hg19) ; chr4:g.1003343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003343A>C , CM000666.2:g.1003343A>C	GRCh38
NC_000004.11:g.997131A>C , CM000666.1:g.997131A>C	GRCh37
NC_000004.10:g.987131A>C	NCBI36
NG_008103.1:g.21347A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1525-2A>C	ENSP00000247933.4:n.1525-2A>C
ENST00000514224.2:c.1525-2A>C MANE Select	ENSP00000425081.2:n.1525-2A>C
ENST00000652070.1:n.1581-2A>C
ENST00000247933.8:c.1525-2A>C	ENSP00000247933.4:n.1525-2A>C
ENST00000502829.1:n.512A>C
ENST00000514224.1:c.1129-2A>C	ENSP00000425081.1:n.1129-2A>C
ENST00000514698.5:n.1632-2A>C
NM_000203.4:c.1525-2A>C	NP_000194.2:n.1525-2A>C
NR_110313.1:n.1613-2A>C
XM_006713882.2:c.1129-2A>C	XP_006713945.1:n.1129-2A>C
XM_011513459.1:c.1591-2A>C	XP_011511761.1:n.1591-2A>C
XM_011513460.1:c.1384-2A>C	XP_011511762.1:n.1384-2A>C
XM_011513461.1:c.1318-2A>C	XP_011511763.1:n.1318-2A>C
XM_011513462.1:c.1237-2A>C	XP_011511764.1:n.1237-2A>C
XM_011513463.1:c.1237-2A>C	XP_011511765.1:n.1237-2A>C
XR_924947.1:n.1779A>C
NM_000203.5:c.1525-2A>C MANE Select	NP_000194.2:n.1525-2A>C
NM_001363576.1:c.1129-2A>C	NP_001350505.1:n.1129-2A>C
XM_011513461.2:c.1318-2A>C	XP_011511763.1:n.1318-2A>C
XM_017008163.1:c.565-2A>C	XP_016863652.1:n.565-2A>C