Canonical Allele Identifier: CA2802100

Gene: IDUA

Linked Data

• ClinVar Variation Id: 905910
• ClinVar RCV Id: RCV001375619 ; RCV001154740 ; RCV001760110
• dbSNP Id: rs202051939
• ExAC: 4:995783 C / G
• gnomAD v2: 4-995783-C-G
• gnomAD v3: 4-1001995-C-G
• gnomAD v4: 4-1001995-C-G
• MyVariant Identifiers: chr4:g.995783C>G (hg19) ; chr4:g.1001995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001995C>G , CM000666.2:g.1001995C>G	GRCh38
NC_000004.11:g.995783C>G , CM000666.1:g.995783C>G	GRCh37
NC_000004.10:g.985783C>G	NCBI36
NG_008103.1:g.19999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.806C>G	ENSP00000247933.4:p.Ser269Cys
ENST00000514224.2:c.806C>G MANE Select	ENSP00000425081.2:p.Ser269Cys
ENST00000652070.1:n.862C>G
ENST00000247933.8:c.806C>G	ENSP00000247933.4:p.Ser269Cys
ENST00000502910.5:c.665C>G	ENSP00000422952.1:p.Ser222Cys
ENST00000514192.5:c.623C>G	ENSP00000423685.1:p.Ser208Cys
ENST00000514224.1:c.410C>G	ENSP00000425081.1:p.Ser137Cys
ENST00000514698.5:n.806C>G
NM_000203.4:c.806C>G	NP_000194.2:p.Ser269Cys
NR_110313.1:n.894C>G
XM_006713882.2:c.410C>G	XP_006713945.1:p.Ser137Cys
XM_011513459.1:c.765C>G	XP_011511761.1:p.Leu255=
XM_011513460.1:c.665C>G	XP_011511762.1:p.Ser222Cys
XM_011513461.1:c.599C>G	XP_011511763.1:p.Ser200Cys
XM_011513462.1:c.518C>G	XP_011511764.1:p.Ser173Cys
XM_011513463.1:c.518C>G	XP_011511765.1:p.Ser173Cys
XR_924947.1:n.875C>G
NM_000203.5:c.806C>G MANE Select	NP_000194.2:p.Ser269Cys
NM_001363576.1:c.410C>G	NP_001350505.1:p.Ser137Cys
XM_011513461.2:c.599C>G	XP_011511763.1:p.Ser200Cys
XM_017008163.1:c.-155C>G	XP_016863652.1:n.-155C>G