Canonical Allele Identifier: CA438057338

Gene: IDUA

Linked Data

• dbSNP Id: rs1239931045
• gnomAD v2: 4-995624-T-G
• gnomAD v4: 4-1001836-T-G
• MyVariant Identifiers: chr4:g.995624T>G (hg19) ; chr4:g.1001836T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001836T>G , CM000666.2:g.1001836T>G	GRCh38
NC_000004.11:g.995624T>G , CM000666.1:g.995624T>G	GRCh37
NC_000004.10:g.985624T>G	NCBI36
NG_008103.1:g.19840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.747T>G	ENSP00000247933.4:p.Thr249=
ENST00000514224.2:c.747T>G MANE Select	ENSP00000425081.2:p.Thr249=
ENST00000652070.1:n.803T>G
ENST00000247933.8:c.747T>G	ENSP00000247933.4:p.Thr249=
ENST00000502910.5:c.606T>G	ENSP00000422952.1:p.Thr202=
ENST00000514192.5:c.564T>G	ENSP00000423685.1:p.Thr188=
ENST00000514224.1:c.351T>G	ENSP00000425081.1:p.Thr117=
ENST00000514698.5:n.647T>G
NM_000203.4:c.747T>G	NP_000194.2:p.Thr249=
NR_110313.1:n.835T>G
XM_006713882.2:c.351T>G	XP_006713945.1:p.Thr117=
XM_011513459.1:c.606T>G	XP_011511761.1:p.Thr202=
XM_011513460.1:c.606T>G	XP_011511762.1:p.Thr202=
XM_011513461.1:c.540T>G	XP_011511763.1:p.Thr180=
XM_011513462.1:c.459T>G	XP_011511764.1:p.Thr153=
XM_011513463.1:c.459T>G	XP_011511765.1:p.Thr153=
XR_924947.1:n.816T>G
NM_000203.5:c.747T>G MANE Select	NP_000194.2:p.Thr249=
NM_001363576.1:c.351T>G	NP_001350505.1:p.Thr117=
XM_011513461.2:c.540T>G	XP_011511763.1:p.Thr180=
XM_017008163.1:c.-214T>G	XP_016863652.1:n.-214T>G