Canonical Allele Identifier: CA355962965

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996072C>A (hg19) ; chr4:g.1002284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002284C>A , CM000666.2:g.1002284C>A	GRCh38
NC_000004.11:g.996072C>A , CM000666.1:g.996072C>A	GRCh37
NC_000004.10:g.986072C>A	NCBI36
NG_008103.1:g.20288C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.988C>A	ENSP00000247933.4:p.Gln330Lys
ENST00000514224.2:c.988C>A MANE Select	ENSP00000425081.2:p.Gln330Lys
ENST00000652070.1:n.1044C>A
ENST00000247933.8:c.988C>A	ENSP00000247933.4:p.Gln330Lys
ENST00000514224.1:c.592C>A	ENSP00000425081.1:p.Gln198Lys
ENST00000514698.5:n.1095C>A
NM_000203.4:c.988C>A	NP_000194.2:p.Gln330Lys
NR_110313.1:n.1076C>A
XM_006713882.2:c.592C>A	XP_006713945.1:p.Gln198Lys
XM_011513459.1:c.1054C>A	XP_011511761.1:p.Gln352Lys
XM_011513460.1:c.847C>A	XP_011511762.1:p.Gln283Lys
XM_011513461.1:c.781C>A	XP_011511763.1:p.Gln261Lys
XM_011513462.1:c.700C>A	XP_011511764.1:p.Gln234Lys
XM_011513463.1:c.700C>A	XP_011511765.1:p.Gln234Lys
XR_924947.1:n.1057C>A
NM_000203.5:c.988C>A MANE Select	NP_000194.2:p.Gln330Lys
NM_001363576.1:c.592C>A	NP_001350505.1:p.Gln198Lys
XM_011513461.2:c.781C>A	XP_011511763.1:p.Gln261Lys
XM_017008163.1:c.28C>A	XP_016863652.1:p.Gln10Lys