Canonical Allele Identifier: CA549264479

Gene: IDUA

Linked Data

• dbSNP Id: rs1297961427
• gnomAD v2: 4-995727-G-C
• gnomAD v3: 4-1001939-G-C
• gnomAD v4: 4-1001939-G-C
• MyVariant Identifiers: chr4:g.995727G>C (hg19) ; chr4:g.1001939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001939G>C , CM000666.2:g.1001939G>C	GRCh38
NC_000004.11:g.995727G>C , CM000666.1:g.995727G>C	GRCh37
NC_000004.10:g.985727G>C	NCBI36
NG_008103.1:g.19943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-43G>C	ENSP00000247933.4:n.793-43G>C
ENST00000514224.2:c.793-43G>C MANE Select	ENSP00000425081.2:n.793-43G>C
ENST00000652070.1:n.849-43G>C
ENST00000247933.8:c.793-43G>C	ENSP00000247933.4:n.793-43G>C
ENST00000502910.5:c.652-43G>C	ENSP00000422952.1:n.652-43G>C
ENST00000514192.5:c.610-43G>C	ENSP00000423685.1:n.610-43G>C
ENST00000514224.1:c.397-43G>C	ENSP00000425081.1:n.397-43G>C
ENST00000514698.5:n.750G>C
NM_000203.4:c.793-43G>C	NP_000194.2:n.793-43G>C
NR_110313.1:n.881-43G>C
XM_006713882.2:c.397-43G>C	XP_006713945.1:n.397-43G>C
XM_011513459.1:c.709G>C	XP_011511761.1:p.Gly237Arg
XM_011513460.1:c.652-43G>C	XP_011511762.1:n.652-43G>C
XM_011513461.1:c.586-43G>C	XP_011511763.1:n.586-43G>C
XM_011513462.1:c.505-43G>C	XP_011511764.1:n.505-43G>C
XM_011513463.1:c.505-43G>C	XP_011511765.1:n.505-43G>C
XR_924947.1:n.862-43G>C
NM_000203.5:c.793-43G>C MANE Select	NP_000194.2:n.793-43G>C
NM_001363576.1:c.397-43G>C	NP_001350505.1:n.397-43G>C
XM_011513461.2:c.586-43G>C	XP_011511763.1:n.586-43G>C
XM_017008163.1:c.-168-43G>C	XP_016863652.1:n.-168-43G>C