Canonical Allele Identifier: CA2669482185

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002693-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002693A>C , CM000666.2:g.1002693A>C	GRCh38
NC_000004.11:g.996481A>C , CM000666.1:g.996481A>C	GRCh37
NC_000004.10:g.986481A>C	NCBI36
NG_008103.1:g.20697A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-39A>C	ENSP00000247933.4:n.1190-39A>C
ENST00000514224.2:c.1190-39A>C MANE Select	ENSP00000425081.2:n.1190-39A>C
ENST00000652070.1:n.1246-39A>C
ENST00000247933.8:c.1190-39A>C	ENSP00000247933.4:n.1190-39A>C
ENST00000514224.1:c.794-39A>C	ENSP00000425081.1:n.794-39A>C
ENST00000514698.5:n.1297-39A>C
NM_000203.4:c.1190-39A>C	NP_000194.2:n.1190-39A>C
NR_110313.1:n.1278-39A>C
XM_006713882.2:c.794-39A>C	XP_006713945.1:n.794-39A>C
XM_011513459.1:c.1256-39A>C	XP_011511761.1:n.1256-39A>C
XM_011513460.1:c.1049-39A>C	XP_011511762.1:n.1049-39A>C
XM_011513461.1:c.983-39A>C	XP_011511763.1:n.983-39A>C
XM_011513462.1:c.902-39A>C	XP_011511764.1:n.902-39A>C
XM_011513463.1:c.902-39A>C	XP_011511765.1:n.902-39A>C
XR_924947.1:n.1259-39A>C
NM_000203.5:c.1190-39A>C MANE Select	NP_000194.2:n.1190-39A>C
NM_001363576.1:c.794-39A>C	NP_001350505.1:n.794-39A>C
XM_011513461.2:c.983-39A>C	XP_011511763.1:n.983-39A>C
XM_017008163.1:c.230-39A>C	XP_016863652.1:n.230-39A>C