Canonical Allele Identifier: CA275298

Gene: IDUA

Linked Data

• ClinVar Variation Id: 197644
• ClinVar RCV Id: RCV000178734
• dbSNP Id: rs794727701
• MyVariant Identifiers: chr4:g.995255G>C (hg19) ; chr4:g.1001467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001467G>C , CM000666.2:g.1001467G>C	GRCh38
NC_000004.11:g.995255G>C , CM000666.1:g.995255G>C	GRCh37
NC_000004.10:g.985255G>C	NCBI36
NG_008103.1:g.19471G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-1G>C	ENSP00000247933.4:n.494-1G>C
ENST00000514224.2:c.494-1G>C MANE Select	ENSP00000425081.2:n.494-1G>C
ENST00000652070.1:n.550-1G>C
ENST00000247933.8:c.494-1G>C	ENSP00000247933.4:n.494-1G>C
ENST00000502910.5:c.353-1G>C	ENSP00000422952.1:n.353-1G>C
ENST00000504568.5:c.454-1G>C
ENST00000509948.5:c.287-1G>C	ENSP00000424227.1:n.287-1G>C
ENST00000514192.5:c.311-1G>C	ENSP00000423685.1:n.311-1G>C
ENST00000514224.1:c.98-1G>C	ENSP00000425081.1:n.98-1G>C
ENST00000514698.5:n.394-1G>C
NM_000203.4:c.494-1G>C	NP_000194.2:n.494-1G>C
NR_110313.1:n.582-1G>C
XM_006713882.2:c.98-1G>C	XP_006713945.1:n.98-1G>C
XM_011513459.1:c.353-1G>C	XP_011511761.1:n.353-1G>C
XM_011513460.1:c.353-1G>C	XP_011511762.1:n.353-1G>C
XM_011513461.1:c.287-1G>C	XP_011511763.1:n.287-1G>C
XM_011513462.1:c.206-1G>C	XP_011511764.1:n.206-1G>C
XM_011513463.1:c.206-1G>C	XP_011511765.1:n.206-1G>C
XR_924947.1:n.563-1G>C
NM_000203.5:c.494-1G>C MANE Select	NP_000194.2:n.494-1G>C
NM_001363576.1:c.98-1G>C	NP_001350505.1:n.98-1G>C
XM_011513461.2:c.287-1G>C	XP_011511763.1:n.287-1G>C
XM_017008163.1:c.-496G>C	XP_016863652.1:n.-496G>C