Canonical Allele Identifier: CA2802030

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2194169
• ClinVar RCV Id: RCV002612435
• dbSNP Id: rs372948062
• ExAC: 4:995489 C / G
• gnomAD v2: 4-995489-C-G
• gnomAD v4: 4-1001701-C-G
• MyVariant Identifiers: chr4:g.995489C>G (hg19) ; chr4:g.1001701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001701C>G , CM000666.2:g.1001701C>G	GRCh38
NC_000004.11:g.995489C>G , CM000666.1:g.995489C>G	GRCh37
NC_000004.10:g.985489C>G	NCBI36
NG_008103.1:g.19705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.612C>G	ENSP00000247933.4:p.Ala204=
ENST00000514224.2:c.612C>G MANE Select	ENSP00000425081.2:p.Ala204=
ENST00000652070.1:n.668C>G
ENST00000247933.8:c.612C>G	ENSP00000247933.4:p.Ala204=
ENST00000502910.5:c.471C>G	ENSP00000422952.1:p.Ala157=
ENST00000504568.5:c.572C>G
ENST00000509948.5:c.405C>G	ENSP00000424227.1:p.Ala135=
ENST00000514192.5:c.429C>G	ENSP00000423685.1:p.Ala143=
ENST00000514224.1:c.216C>G	ENSP00000425081.1:p.Ala72=
ENST00000514698.5:n.512C>G
NM_000203.4:c.612C>G	NP_000194.2:p.Ala204=
NR_110313.1:n.700C>G
XM_006713882.2:c.216C>G	XP_006713945.1:p.Ala72=
XM_011513459.1:c.471C>G	XP_011511761.1:p.Ala157=
XM_011513460.1:c.471C>G	XP_011511762.1:p.Ala157=
XM_011513461.1:c.405C>G	XP_011511763.1:p.Ala135=
XM_011513462.1:c.324C>G	XP_011511764.1:p.Ala108=
XM_011513463.1:c.324C>G	XP_011511765.1:p.Ala108=
XR_924947.1:n.681C>G
NM_000203.5:c.612C>G MANE Select	NP_000194.2:p.Ala204=
NM_001363576.1:c.216C>G	NP_001350505.1:p.Ala72=
XM_011513461.2:c.405C>G	XP_011511763.1:p.Ala135=
XM_017008163.1:c.-349C>G	XP_016863652.1:n.-349C>G