Canonical Allele Identifier: CA2802103

Gene: IDUA

Linked Data

• ClinVar Variation Id: 350226
• ClinVar RCV Id: RCV000356974
• dbSNP Id: rs536381533
• ExAC: 4:995791 A / C
• gnomAD v2: 4-995791-A-C
• gnomAD v3: 4-1002003-A-C
• gnomAD v4: 4-1002003-A-C
• MyVariant Identifiers: chr4:g.995791A>C (hg19) ; chr4:g.1002003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002003A>C , CM000666.2:g.1002003A>C	GRCh38
NC_000004.11:g.995791A>C , CM000666.1:g.995791A>C	GRCh37
NC_000004.10:g.985791A>C	NCBI36
NG_008103.1:g.20007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.814A>C	ENSP00000247933.4:p.Ile272Leu
ENST00000514224.2:c.814A>C MANE Select	ENSP00000425081.2:p.Ile272Leu
ENST00000652070.1:n.870A>C
ENST00000247933.8:c.814A>C	ENSP00000247933.4:p.Ile272Leu
ENST00000502910.5:c.673A>C
ENST00000514192.5:c.631A>C	ENSP00000423685.1:p.Ile211Leu
ENST00000514224.1:c.418A>C	ENSP00000425081.1:p.Ile140Leu
ENST00000514698.5:n.814A>C
NM_000203.4:c.814A>C	NP_000194.2:p.Ile272Leu
NR_110313.1:n.902A>C
XM_006713882.2:c.418A>C	XP_006713945.1:p.Ile140Leu
XM_011513459.1:c.773A>C	XP_011511761.1:p.His258Pro
XM_011513460.1:c.673A>C	XP_011511762.1:p.Ile225Leu
XM_011513461.1:c.607A>C	XP_011511763.1:p.Ile203Leu
XM_011513462.1:c.526A>C	XP_011511764.1:p.Ile176Leu
XM_011513463.1:c.526A>C	XP_011511765.1:p.Ile176Leu
XR_924947.1:n.883A>C
NM_000203.5:c.814A>C MANE Select	NP_000194.2:p.Ile272Leu
NM_001363576.1:c.418A>C	NP_001350505.1:p.Ile140Leu
XM_011513461.2:c.607A>C	XP_011511763.1:p.Ile203Leu
XM_017008163.1:c.-147A>C	XP_016863652.1:n.-147A>C