Canonical Allele Identifier: CA2802086

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1543375
• ClinVar RCV Id: RCV002170068
• dbSNP Id: rs757783999
• ExAC: 4:995681 C / T
• gnomAD v2: 4-995681-C-T
• gnomAD v3: 4-1001893-C-T
• gnomAD v4: 4-1001893-C-T
• MyVariant Identifiers: chr4:g.995681C>T (hg19) ; chr4:g.1001893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001893C>T , CM000666.2:g.1001893C>T	GRCh38
NC_000004.11:g.995681C>T , CM000666.1:g.995681C>T	GRCh37
NC_000004.10:g.985681C>T	NCBI36
NG_008103.1:g.19897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.792+12C>T	ENSP00000247933.4:n.792+12C>T
ENST00000514224.2:c.792+12C>T MANE Select	ENSP00000425081.2:n.792+12C>T
ENST00000652070.1:n.848+12C>T
ENST00000247933.8:c.792+12C>T	ENSP00000247933.4:n.792+12C>T
ENST00000502910.5:c.651+12C>T	ENSP00000422952.1:n.651+12C>T
ENST00000514192.5:c.609+12C>T	ENSP00000423685.1:n.609+12C>T
ENST00000514224.1:c.396+12C>T	ENSP00000425081.1:n.396+12C>T
ENST00000514698.5:n.704C>T
NM_000203.4:c.792+12C>T	NP_000194.2:n.792+12C>T
NR_110313.1:n.880+12C>T
XM_006713882.2:c.396+12C>T	XP_006713945.1:n.396+12C>T
XM_011513459.1:c.663C>T	XP_011511761.1:p.Ala221=
XM_011513460.1:c.651+12C>T	XP_011511762.1:n.651+12C>T
XM_011513461.1:c.585+12C>T	XP_011511763.1:n.585+12C>T
XM_011513462.1:c.504+12C>T	XP_011511764.1:n.504+12C>T
XM_011513463.1:c.504+12C>T	XP_011511765.1:n.504+12C>T
XR_924947.1:n.861+12C>T
NM_000203.5:c.792+12C>T MANE Select	NP_000194.2:n.792+12C>T
NM_001363576.1:c.396+12C>T	NP_001350505.1:n.396+12C>T
XM_011513461.2:c.585+12C>T	XP_011511763.1:n.585+12C>T
XM_017008163.1:c.-169+12C>T	XP_016863652.1:n.-169+12C>T