Canonical Allele Identifier: CA2802183

Gene: IDUA

Linked Data

• dbSNP Id: rs765231968
• ExAC: 4:996169 A / C
• gnomAD v2: 4-996169-A-C
• gnomAD v4: 4-1002381-A-C
• MyVariant Identifiers: chr4:g.996169A>C (hg19) ; chr4:g.996169_996175delinsCGCGCAC (hg19) ; chr4:g.1002381A>C (hg38) ; chr4:g.1002381_1002387delinsCGCGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002381A>C , CM000666.2:g.1002381A>C	GRCh38
NC_000004.11:g.996169A>C , CM000666.1:g.996169A>C	GRCh37
NC_000004.10:g.986169A>C	NCBI36
NG_008103.1:g.20385A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1085A>C	ENSP00000247933.4:p.Gln362Pro
ENST00000514224.2:c.1085A>C MANE Select	ENSP00000425081.2:p.Gln362Pro
ENST00000652070.1:n.1141A>C
ENST00000247933.8:c.1085A>C	ENSP00000247933.4:p.Gln362Pro
ENST00000514224.1:c.689A>C	ENSP00000425081.1:p.Gln230Pro
ENST00000514698.5:n.1192A>C
NM_000203.4:c.1085A>C	NP_000194.2:p.Gln362Pro
NR_110313.1:n.1173A>C
XM_006713882.2:c.689A>C	XP_006713945.1:p.Gln230Pro
XM_011513459.1:c.1151A>C	XP_011511761.1:p.Gln384Pro
XM_011513460.1:c.944A>C	XP_011511762.1:p.Gln315Pro
XM_011513461.1:c.878A>C	XP_011511763.1:p.Gln293Pro
XM_011513462.1:c.797A>C	XP_011511764.1:p.Gln266Pro
XM_011513463.1:c.797A>C	XP_011511765.1:p.Gln266Pro
XR_924947.1:n.1154A>C
NM_000203.5:c.1085A>C MANE Select	NP_000194.2:p.Gln362Pro
NM_001363576.1:c.689A>C	NP_001350505.1:p.Gln230Pro
XM_011513461.2:c.878A>C	XP_011511763.1:p.Gln293Pro
XM_017008163.1:c.125A>C	XP_016863652.1:p.Gln42Pro