Canonical Allele Identifier: CA355962973

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002286-G-T
• MyVariant Identifiers: chr4:g.996074G>T (hg19) ; chr4:g.1002286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002286G>T , CM000666.2:g.1002286G>T	GRCh38
NC_000004.11:g.996074G>T , CM000666.1:g.996074G>T	GRCh37
NC_000004.10:g.986074G>T	NCBI36
NG_008103.1:g.20290G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.990G>T	ENSP00000247933.4:p.Gln330His
ENST00000514224.2:c.990G>T MANE Select	ENSP00000425081.2:p.Gln330His
ENST00000652070.1:n.1046G>T
ENST00000247933.8:c.990G>T	ENSP00000247933.4:p.Gln330His
ENST00000514224.1:c.594G>T	ENSP00000425081.1:p.Gln198His
ENST00000514698.5:n.1097G>T
NM_000203.4:c.990G>T	NP_000194.2:p.Gln330His
NR_110313.1:n.1078G>T
XM_006713882.2:c.594G>T	XP_006713945.1:p.Gln198His
XM_011513459.1:c.1056G>T	XP_011511761.1:p.Gln352His
XM_011513460.1:c.849G>T	XP_011511762.1:p.Gln283His
XM_011513461.1:c.783G>T	XP_011511763.1:p.Gln261His
XM_011513462.1:c.702G>T	XP_011511764.1:p.Gln234His
XM_011513463.1:c.702G>T	XP_011511765.1:p.Gln234His
XR_924947.1:n.1059G>T
NM_000203.5:c.990G>T MANE Select	NP_000194.2:p.Gln330His
NM_001363576.1:c.594G>T	NP_001350505.1:p.Gln198His
XM_011513461.2:c.783G>T	XP_011511763.1:p.Gln261His
XM_017008163.1:c.30G>T	XP_016863652.1:p.Gln10His